### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DEPDC5) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "DEPDC5" "DEP domain containing 5" "22" "q12.3" "unknown" "NG_034067.1" "UD_136086566454" "" "https://www.LOVD.nl/DEPDC5" "" "1" "18423" "9681" "614191" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DEPDC5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-29 14:38:13" "00006" "2025-09-17 09:38:35" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025398" "DEPDC5" "transcript variant 4" "009" "NM_001242896.1" "" "NP_001229825.1" "" "" "" "-202" "5349" "4812" "32150009" "32303020" "00006" "2019-04-29 14:44:37" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02502" "FFEVF1" "epilepsy, familial focal, with variable foci, type 1" "AD" "604364" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02650" "FCORD2" "dysplasia, cortical, focal type II (FCORD-2)" "" "607341" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "07189" "DEE111" "encephalopathy, developmental and epileptic, type 111" "AR" "620504" "" "" "" "00006" "2025-09-30 18:15:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DEPDC5" "02502" "DEPDC5" "07189" ## Individuals ## Do not remove or alter this header ## ## Count = 70 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00116819" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_130:0/1:CONTROL" "00116829" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_151:0/1:CONTROL" "00116837" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_167:0/1:CONTROL" "00116845" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_182:0/1:CONTROL" "00116876" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_255:0/1:CONTROL" "00116882" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_27:0/1:CONTROL" "00116899" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_301:0/1:CONTROL" "00116906" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_316:0/1:CONTROL" "00116907" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_317:0/1:CONTROL" "00116912" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_331:0/1:CONTROL" "00116922" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_352:0/1:CONTROL" "00116927" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_37:0/1:CONTROL" "00116939" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_406:0/1:CONTROL" "00116956" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_441:0/1:CONTROL" "00116959" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_448:0/1:CONTROL" "00116977" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_491:0/1:CONTROL" "00116985" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_500:0/1:CONTROL" "00116988" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_507:0/1:CONTROL" "00117000" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_527:0/1:CONTROL" "00117007" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_556:0/1:CONTROL" "00117008" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_557:0/1:CONTROL" "00117011" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_56:0/1:CONTROL" "00117020" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_570:0/1:TYPICAL_RE" "00117034" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_595:0/1:TYPICAL_RE" "00117040" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_604:0/1:TYPICAL_RE" "00117047" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_616:0/1:TYPICAL_RE" "00117062" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_639:0/1:TYPICAL_RE" "00117064" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_645:0/1:TYPICAL_RE" "00117082" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_690:0/1:TYPICAL_RE" "00117087" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_704:0/1:TYPICAL_RE" "00117104" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_74:0/1:CONTROL" "00117106" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_743:0/1:TYPICAL_RE" "00117108" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_745:0/1:TYPICAL_RE" "00117114" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_755:0/1:TYPICAL_RE" "00226318" "" "" "" "1" "" "03224" "" "" "F" "?" "" "" "0" "" "" "" "patient1" "00245897" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00293093" "" "" "" "55" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293094" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293095" "" "" "" "106" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293096" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293097" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293098" "" "" "" "124" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293099" "" "" "" "121" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295195" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295562" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00302841" "" "" "" "1" "" "00006" "{PMID:Burger 2017:29075622}" "brother of 302840" "M" "" "United States" "" "0" "" "" "" "FamCase2" "00304896" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304897" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304898" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304899" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308772" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00395430" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "189478" "00398737" "" "" "" "1" "" "01164" "" "" "F" "" "Turkey" "" "0" "" "" "" "190426" "00435438" "" "" "" "4" "" "00006" "{PMID:Yin 2023:36604176}" "3-generation family, 4 affected (2F, 2M)" "M" "no" "China" "" "0" "" "" "" "Fam1PatI1" "00435439" "" "" "00435438" "1" "" "00006" "{PMID:Yin 2023:36604176}" "daughter" "F" "no" "China" "" "0" "" "" "" "Fam1PatII4" "00435440" "" "" "00435438" "1" "" "00006" "{PMID:Yin 2023:36604176}" "grand son" "M" "no" "China" "" "0" "" "" "" "Fam1PatIII1" "00435441" "" "" "00435438" "1" "" "00006" "{PMID:Yin 2023:36604176}" "grand daughter" "F" "no" "China" "" "0" "" "" "" "Fam1PatIII2" "00435442" "" "" "" "5" "" "00006" "{PMID:Yin 2023:36604176}" "4-generation family, 5 affected (2F, 3M)" "F" "no" "China" "" "0" "" "" "" "Fam2PatII4" "00435443" "" "" "00435442" "1" "" "00006" "{PMID:Yin 2023:36604176}" "sister" "M" "no" "China" "" "0" "" "" "" "Fam2PatII11" "00435444" "" "" "00435442" "1" "" "00006" "{PMID:Yin 2023:36604176}" "nephew" "F" "no" "China" "" "0" "" "" "" "Fam2PatIII2" "00435445" "" "" "00435442" "1" "" "00006" "{PMID:Yin 2023:36604176}" "relative" "M" "no" "China" "" "0" "" "" "" "Fam2PatIV1" "00435446" "" "" "00435442" "1" "" "00006" "{PMID:Yin 2023:36604176}" "relative" "M" "no" "China" "" "0" "" "" "" "Fam2PatIV3" "00435447" "" "" "" "4" "" "00006" "{PMID:Yin 2023:36604176}" "4-generation family, 5 affected (4F, M)" "M" "no" "China" "80y-85y" "0" "" "" "" "Fam3PatI1" "00435448" "" "" "00435447" "1" "" "00006" "{PMID:Yin 2023:36604176}" "grand daughter" "F" "no" "China" "" "0" "" "" "" "Fam3PatIII4" "00435449" "" "" "00435447" "1" "" "00006" "{PMID:Yin 2023:36604176}" "grand daughter" "F" "no" "China" "" "0" "" "" "" "Fam3PatIII6" "00435450" "" "" "00435447" "1" "" "00006" "{PMID:Yin 2023:36604176}" "great grand daughter" "F" "no" "China" "" "0" "" "" "" "Fam3PatIV1" "00438315" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat33" "00438325" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat43" "00440423" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2332.1" "00466579" "" "" "" "1" "" "01164" "" "" "M" "no" "(China)" "" "0" "" "" "" "344396" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 69 "{{individualid}}" "{{diseaseid}}" "00116819" "00000" "00116829" "00000" "00116837" "00000" "00116845" "00000" "00116876" "00000" "00116882" "00000" "00116899" "00000" "00116906" "00000" "00116907" "00000" "00116912" "00000" "00116922" "00000" "00116927" "00000" "00116939" "00000" "00116956" "00000" "00116959" "00000" "00116977" "00000" "00116985" "00000" "00116988" "00000" "00117000" "00000" "00117007" "00000" "00117008" "00000" "00117011" "00000" "00117020" "05315" "00117034" "05315" "00117040" "05315" "00117047" "05315" "00117062" "05315" "00117064" "05315" "00117082" "05315" "00117087" "05315" "00117104" "00000" "00117106" "05315" "00117108" "05315" "00117114" "05315" "00226318" "02650" "00293093" "00198" "00293094" "00198" "00293095" "00198" "00293096" "00198" "00293097" "00198" "00293098" "00198" "00293099" "00198" "00295195" "00198" "00295562" "00198" "00302841" "00198" "00304896" "00198" "00304897" "00198" "00304898" "00198" "00304899" "00198" "00308772" "00000" "00395430" "02502" "00398737" "02502" "00435438" "04270" "00435439" "04270" "00435440" "04270" "00435441" "04270" "00435442" "04270" "00435443" "04270" "00435444" "04270" "00435445" "04270" "00435446" "04270" "00435447" "04270" "00435448" "04270" "00435449" "04270" "00435450" "04270" "00438315" "04270" "00438325" "04270" "00440423" "00198" "00466579" "02502" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02502, 02650, 04270, 05315, 07189 ## Count = 33 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000092292" "05315" "00117020" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092303" "05315" "00117034" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092307" "05315" "00117040" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092312" "05315" "00117047" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092325" "05315" "00117062" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092327" "05315" "00117064" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092344" "05315" "00117082" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092348" "05315" "00117087" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092363" "05315" "00117106" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092365" "05315" "00117108" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092369" "05315" "00117114" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000185733" "00198" "00245897" "01164" "Unknown" "" "HP:0012638 (Abnormality of nervous system physiology); HP:0007018 (Attention deficit hyperactivity disorder); HP:0002121 (Absence seizures); HP:0000708 (Behavioral abnormality)" "" "" "" "" "" "" "" "" "" "" "" "0000223127" "00198" "00295562" "01164" "Unknown" "" "Atonic seizures (HP:0010819); Epileptic encephalopathy (HP:0200134); Generalized tonic-clonic seizures (HP:0002069); Abnormality of the cerebral cortex (HP:0002538); Behavioral abnormality (HP:0000708); Atypical absence seizures (HP:0007270); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000229922" "00198" "00302841" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism" "" "0000288629" "02502" "00395430" "01164" "Unknown" "" "Frontal lobe epilepsy since the age of 16 months, right fronto-basal gyration disorder" "" "" "" "" "" "" "" "" "" "16mo" "" "0000291819" "02502" "00398737" "01164" "Familial, autosomal dominant" "12y" "Generalized-onset seizure, Mild global developmental delay, Interictal EEG abnormality; brother also affected (untested)" "" "" "" "" "" "" "" "" "" "" "" "0000325625" "04270" "00435438" "00006" "Familial, autosomal dominant" "70y-75y" "sleep-related hypermotor epilepsy; migraine" "24y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325626" "04270" "00435439" "00006" "Familial, autosomal dominant" "30y-35y" "sleep-related hypermotor epilepsy; migraine; MRI brain normal; EEG no specific abnormality" "10y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325627" "04270" "00435440" "00006" "Familial, autosomal dominant" "20y-25y" "sleep-related hypermotor epilepsy, daytime blank staring; MRI brain normal; EEG bilateral temporal interictal discharges" "11y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325628" "04270" "00435441" "00006" "Familial, autosomal dominant" "20y-25y" "hypermotor epilepsy, day and night; attention deficit, intellectual disability; MRI brain normal; EEG slow waves, right temporal discharges" "10y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325629" "04270" "00435442" "00006" "Familial, autosomal dominant" "70y-75y" "sleep-related hypermotor epilepsy; MRI brain normal" "10y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325630" "04270" "00435443" "00006" "Familial, autosomal dominant" "60y-65y" "convulsive attacks during sleep" "30y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325631" "04270" "00435444" "00006" "Familial, autosomal dominant" "35y-40y" "temporal lobe epilepsy; MRI brain normal; EEG left temporal discharges" "22y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325632" "04270" "00435445" "00006" "Familial, autosomal dominant" "5y-10y" "daytime blank staring, gelastic seizure; attention deficit; MRI brain normal; EEG bilateral temporal and left frontal spikes" "1y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325633" "04270" "00435446" "00006" "Familial, autosomal dominant" "5y-10y" "convulsive attacks during sleep" "2y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325634" "04270" "00435447" "00006" "Familial, autosomal dominant" "80y-85y" "80y-85y-deceased; convulsive attacks during sleep" "30y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325635" "04270" "00435448" "00006" "Familial, autosomal dominant" "50y-55y" "daytime blank staring, night convulsive seizure" "20y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325636" "04270" "00435449" "00006" "Familial, autosomal dominant" "45y-50y" "night tonic-clonic seizure with aura; MRI brain normal; EEG normal" "8y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000325637" "04270" "00435450" "00006" "Familial, autosomal dominant" "25y-30y" "night focal seizure with undetermined origin; MRI brain normal; EEG normal" "7y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328219" "04270" "00438315" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "4y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328229" "04270" "00438325" "00006" "Unknown" "" "HP:0001250 seizures; HP:0008554 cochlear malformation" "7y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330333" "00198" "00440423" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Familial focal epilepsy with variable foci (MIM #604364)" "" "" "0000351942" "02502" "00466579" "01164" "Familial, autosomal dominant" "12y" "Nocturnal seizures, Bilateral tonic-clonic seizure with generalized onset" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 70 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000117287" "00116819" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117297" "00116829" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117305" "00116837" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117313" "00116845" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117344" "00116876" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117350" "00116882" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117367" "00116899" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117374" "00116906" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117375" "00116907" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117380" "00116912" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117390" "00116922" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117395" "00116927" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117407" "00116939" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117424" "00116956" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117427" "00116959" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117445" "00116977" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117453" "00116985" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117456" "00116988" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117468" "00117000" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117475" "00117007" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117476" "00117008" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117479" "00117011" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117494" "00117104" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117503" "00117020" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117514" "00117034" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117518" "00117040" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117523" "00117047" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117536" "00117062" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117538" "00117064" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117555" "00117082" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117559" "00117087" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117574" "00117106" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117576" "00117108" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117580" "00117114" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000227385" "00226318" "1" "03224" "03224" "2019-03-08 11:10:05" "" "" "SEQ-NG" "DNA" "Brain tissue, blood" "gene panel" "0000247009" "00245897" "1" "01164" "01164" "2019-07-11 09:54:46" "" "" "SEQ-NG-S" "DNA" "" "" "0000294261" "00293093" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294262" "00293094" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294263" "00293095" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294264" "00293096" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294265" "00293097" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294266" "00293098" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294267" "00293099" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296363" "00295195" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296732" "00295562" "1" "01164" "01164" "2020-03-18 10:48:15" "" "" "SEQ-NG-S" "DNA" "" "" "0000303968" "00302841" "1" "00006" "00006" "2020-06-02 09:26:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306025" "00304896" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306026" "00304897" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306027" "00304898" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306028" "00304899" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309917" "00308772" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000396668" "00395430" "1" "01164" "01164" "2021-12-06 15:04:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000399978" "00398737" "1" "01164" "01164" "2022-01-10 14:10:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000436917" "00435438" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436918" "00435439" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436919" "00435440" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436920" "00435441" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436921" "00435442" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436922" "00435443" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436923" "00435444" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436924" "00435445" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436925" "00435446" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436926" "00435447" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436927" "00435448" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436928" "00435449" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000436929" "00435450" "1" "00006" "00006" "2023-07-26 11:20:16" "" "" "SEQ" "DNA" "" "gene panel" "0000439797" "00438315" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439807" "00438325" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441908" "00440423" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468242" "00466579" "1" "01164" "01164" "2025-09-15 11:48:50" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000227385" "DEPDC5" "0000303968" "DEPDC5" "0000309917" "DEPDC5" "0000396668" "DEPDC5" "0000399978" "DEPDC5" "0000436917" "DEPDC5" "0000436918" "DEPDC5" "0000436919" "DEPDC5" "0000436920" "DEPDC5" "0000436921" "DEPDC5" "0000436922" "DEPDC5" "0000436923" "DEPDC5" "0000436924" "DEPDC5" "0000436925" "DEPDC5" "0000436926" "DEPDC5" "0000436927" "DEPDC5" "0000436928" "DEPDC5" "0000436929" "DEPDC5" "0000468242" "DEPDC5" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 320 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000188142" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188150" "0" "70" "22" "32202180" "32202180" "subst" "1.6279E-5" "02192" "DEPDC5_000006" "g.32202180A>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31806194A>G" "" "likely pathogenic" "" "0000188158" "0" "30" "22" "32229931" "32229931" "subst" "0.00858609" "02192" "DEPDC5_000012" "g.32229931C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs16989535" "0" "" "" "g.31833945C>T" "" "likely benign" "" "0000188189" "0" "30" "22" "32229931" "32229931" "subst" "0.00858609" "02192" "DEPDC5_000012" "g.32229931C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs16989535" "0" "" "" "g.31833945C>T" "" "likely benign" "" "0000188195" "0" "50" "22" "32206537" "32206537" "subst" "0.000458973" "02192" "DEPDC5_000008" "g.32206537C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202226316" "0" "" "" "g.31810551C>T" "" "VUS" "" "0000188212" "0" "50" "22" "32193632" "32193632" "subst" "0.00226744" "02192" "DEPDC5_000004" "g.32193632G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs187334123" "0" "" "" "g.31797646G>A" "" "VUS" "" "0000188219" "0" "50" "22" "32150851" "32150851" "subst" "0" "02192" "DEPDC5_000001" "g.32150851G>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31754865G>C" "" "VUS" "" "0000188220" "0" "70" "22" "32272186" "32272186" "subst" "0" "02192" "DEPDC5_000018" "g.32272186C>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31876200C>G" "" "likely pathogenic" "" "0000188225" "0" "70" "22" "32162622" "32162622" "subst" "8.13273E-6" "02192" "DEPDC5_000003" "g.32162622C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31766636C>T" "" "likely pathogenic" "" "0000188235" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188240" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188252" "0" "50" "22" "32257351" "32257351" "subst" "0.000848593" "02192" "DEPDC5_000015" "g.32257351C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs371377906" "0" "" "" "g.31861365C>T" "" "VUS" "" "0000188269" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188272" "0" "30" "22" "32229931" "32229931" "subst" "0.00858609" "02192" "DEPDC5_000012" "g.32229931C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs16989535" "0" "" "" "g.31833945C>T" "" "likely benign" "" "0000188290" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188301" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188313" "0" "30" "22" "32206512" "32206512" "subst" "0.000857187" "02192" "DEPDC5_000007" "g.32206512G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs201394709" "0" "" "" "g.31810526G>A" "" "likely benign" "" "0000188320" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188324" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188333" "0" "70" "22" "32161035" "32161035" "subst" "1.62495E-5" "02192" "DEPDC5_000002" "g.32161035G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31765049G>A" "" "likely pathogenic" "" "0000188347" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188353" "0" "50" "22" "32193632" "32193632" "subst" "3.66372E-5" "02192" "DEPDC5_000005" "g.32193632G>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31797646G>T" "" "VUS" "" "0000188360" "0" "90" "22" "32266689" "32266689" "del" "0" "02192" "DEPDC5_000016" "g.32266689del" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "frameshift_deletion" "Germline" "" "" "0" "" "" "g.31870703del" "" "pathogenic" "" "0000188375" "0" "50" "22" "32218738" "32218738" "subst" "8.94527E-5" "02192" "DEPDC5_000011" "g.32218738A>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs370940232" "0" "" "" "g.31822752A>C" "" "VUS" "" "0000188377" "0" "50" "22" "32257351" "32257351" "subst" "0.000848593" "02192" "DEPDC5_000015" "g.32257351C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs371377906" "0" "" "" "g.31861365C>T" "" "VUS" "" "0000188400" "0" "30" "22" "32229931" "32229931" "subst" "0.00858609" "02192" "DEPDC5_000012" "g.32229931C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs16989535" "0" "" "" "g.31833945C>T" "" "likely benign" "" "0000188417" "0" "50" "22" "32211057" "32211057" "subst" "0.000337108" "02192" "DEPDC5_000009" "g.32211057C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202083639" "0" "" "" "g.31815071C>T" "" "VUS" "" "0000188419" "0" "50" "22" "32150851" "32150851" "subst" "0" "02192" "DEPDC5_000001" "g.32150851G>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31754865G>C" "" "VUS" "" "0000188421" "0" "70" "22" "32266729" "32266729" "subst" "0" "02192" "DEPDC5_000017" "g.32266729A>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.31870743A>G" "" "likely pathogenic" "" "0000188427" "0" "70" "22" "32234808" "32234809" "ins" "0" "02192" "DEPDC5_000013" "g.32234808_32234809insAGA" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "nonframeshift_insertion" "Germline" "" "" "0" "" "" "g.31838822_31838823insAGA" "" "likely pathogenic" "" "0000188444" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188496" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188504" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02192" "DEPDC5_000010" "g.32218692C>T" "11/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000188537" "0" "70" "22" "32253516" "32253516" "subst" "0.000284174" "02192" "DEPDC5_000014" "g.32253516A>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs142540948" "0" "" "" "g.31857530A>C" "" "likely pathogenic" "" "0000251055" "0" "10" "22" "32194581" "32194581" "subst" "0.0361669" "02326" "DEPDC5_000057" "g.32194581A>G" "" "" "" "DEPDC5(NM_001242896.3):c.885A>G (p.Q295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31798595A>G" "" "benign" "" "0000251119" "0" "10" "22" "32266603" "32266603" "subst" "0.0212395" "02326" "DEPDC5_000120" "g.32266603A>G" "" "" "" "DEPDC5(NM_001136029.2):c.3331A>G (p.(Met1111Val)), DEPDC5(NM_001242896.3):c.3358A>G (p.M1120V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31870617A>G" "" "benign" "" "0000251648" "0" "10" "22" "32160864" "32160864" "subst" "0" "02326" "DEPDC5_000031" "g.32160864A>G" "" "" "" "DEPDC5(NM_001242896.3):c.194-97A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31764878A>G" "" "benign" "" "0000251649" "0" "10" "22" "32174198" "32174198" "subst" "0.0391777" "02326" "DEPDC5_000045" "g.32174198A>G" "" "" "" "DEPDC5(NM_001242896.3):c.483+44A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31778212A>G" "" "benign" "" "0000251650" "0" "10" "22" "32229674" "32229674" "subst" "0" "02326" "DEPDC5_000093" "g.32229674A>G" "" "" "" "DEPDC5(NM_001242896.3):c.2105-227A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31833688A>G" "" "benign" "" "0000251651" "0" "10" "22" "32238975" "32238975" "subst" "0" "02326" "DEPDC5_000104" "g.32238975A>G" "" "" "" "DEPDC5(NM_001242896.3):c.2516-106A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31842989A>G" "" "benign" "" "0000251652" "0" "10" "22" "32269023" "32269023" "subst" "0" "02326" "DEPDC5_000122" "g.32269023A>G" "" "" "" "DEPDC5(NM_001242896.3):c.3486-218A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31873037A>G" "" "benign" "" "0000251815" "0" "30" "22" "32270262" "32270262" "subst" "0.000676289" "02326" "DEPDC5_000125" "g.32270262A>G" "" "" "" "DEPDC5(NM_001242896.2):c.3567A>G (p.T1189=), DEPDC5(NM_001242896.3):c.3567A>G (p.T1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31874276A>G" "" "likely benign" "" "0000252327" "0" "30" "22" "32150743" "32150743" "subst" "0" "02326" "DEPDC5_000019" "g.32150743A>G" "" "" "" "DEPDC5(NM_001242896.3):c.-60-105A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31754757A>G" "" "likely benign" "" "0000252328" "0" "30" "22" "32150821" "32150821" "subst" "0" "02326" "DEPDC5_000020" "g.32150821A>T" "" "" "" "DEPDC5(NM_001242896.3):c.-60-27A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31754835A>T" "" "likely benign" "" "0000252329" "0" "30" "22" "32151033" "32151033" "subst" "0" "02326" "DEPDC5_000023" "g.32151033A>G" "" "" "" "DEPDC5(NM_001242896.3):c.58+68A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31755047A>G" "" "likely benign" "" "0000252330" "0" "30" "22" "32151142" "32151142" "subst" "0" "02326" "DEPDC5_000025" "g.32151142A>G" "" "" "" "DEPDC5(NM_001242896.3):c.58+177A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31755156A>G" "" "likely benign" "" "0000252331" "0" "30" "22" "32164720" "32164720" "subst" "0" "02326" "DEPDC5_000039" "g.32164720A>G" "" "" "" "DEPDC5(NM_001242896.3):c.364-80A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31768734A>G" "" "likely benign" "" "0000252332" "0" "30" "22" "32187947" "32187947" "subst" "0" "02326" "DEPDC5_000151" "g.32187947A>G" "" "" "" "DEPDC5(NM_001242896.3):c.625-72A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31791961A>G" "" "likely benign" "" "0000252333" "0" "30" "22" "32188180" "32188180" "subst" "0" "02326" "DEPDC5_000047" "g.32188180A>G" "" "" "" "DEPDC5(NM_001242896.3):c.694+92A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31792194A>G" "" "likely benign" "" "0000252334" "0" "30" "22" "32188622" "32188622" "subst" "0" "02326" "DEPDC5_000050" "g.32188622A>C" "" "" "" "DEPDC5(NM_001242896.3):c.695-109A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31792636A>C" "" "likely benign" "" "0000252335" "0" "30" "22" "32194491" "32194491" "subst" "0" "02326" "DEPDC5_000055" "g.32194491A>G" "" "" "" "DEPDC5(NM_001242896.3):c.872-77A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31798505A>G" "" "likely benign" "" "0000252336" "0" "30" "22" "32194506" "32194506" "del" "0" "02326" "DEPDC5_000152" "g.32194506del" "" "" "" "DEPDC5(NM_001242896.3):c.872-62delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31798520del" "" "likely benign" "" "0000252337" "0" "30" "22" "32201020" "32201020" "subst" "0" "02326" "DEPDC5_000070" "g.32201020A>G" "" "" "" "DEPDC5(NM_001242896.3):c.1217+119A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31805034A>G" "" "likely benign" "" "0000252338" "0" "30" "22" "32206719" "32206719" "subst" "0" "02326" "DEPDC5_000076" "g.32206719A>T" "" "" "" "DEPDC5(NM_001242896.3):c.1445+92A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31810733A>T" "" "likely benign" "" "0000252339" "0" "30" "22" "32215321" "32215321" "subst" "0" "02326" "DEPDC5_000084" "g.32215321A>G" "" "" "" "DEPDC5(NM_001242896.3):c.1870+110A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31819335A>G" "" "likely benign" "" "0000252340" "0" "30" "22" "32217378" "32217378" "subst" "0" "02326" "DEPDC5_000153" "g.32217378A>G" "" "" "" "DEPDC5(NM_001242896.3):c.1871-110A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31821392A>G" "" "likely benign" "" "0000252341" "0" "30" "22" "32232909" "32232909" "subst" "0" "02326" "DEPDC5_000097" "g.32232909A>T" "" "" "" "DEPDC5(NM_001242896.3):c.2171-49A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31836923A>T" "" "likely benign" "" "0000252342" "0" "30" "22" "32238941" "32238941" "del" "0" "02326" "DEPDC5_000154" "g.32238941del" "" "" "" "DEPDC5(NM_001242896.3):c.2516-140delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31842955del" "" "likely benign" "" "0000252343" "0" "30" "22" "32238945" "32238945" "del" "0" "02326" "DEPDC5_000103" "g.32238945del" "" "" "" "DEPDC5(NM_001242896.3):c.2516-136delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31842959del" "" "likely benign" "" "0000252344" "0" "30" "22" "32239047" "32239047" "subst" "0" "02326" "DEPDC5_000105" "g.32239047A>C" "" "" "" "DEPDC5(NM_001242896.3):c.2516-34A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31843061A>C" "" "likely benign" "" "0000252345" "0" "30" "22" "32240924" "32240924" "subst" "0" "02326" "DEPDC5_000111" "g.32240924A>G" "" "" "" "DEPDC5(NM_001242896.3):c.2802-80A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31844938A>G" "" "likely benign" "" "0000252346" "0" "30" "22" "32257181" "32257181" "del" "0" "02326" "DEPDC5_000119" "g.32257181del" "" "" "" "DEPDC5(NM_001242896.3):c.3265-173delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31861195del" "" "likely benign" "" "0000254276" "0" "30" "22" "32253452" "32253452" "subst" "4.22879E-6" "01943" "DEPDC5_000115" "g.32253452A>G" "" "" "" "DEPDC5(NM_001242896.2):c.3177A>G (p.A1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31857466A>G" "" "likely benign" "" "0000267314" "0" "30" "22" "32211390" "32211393" "del" "0" "02325" "DEPDC5_000082" "g.32211390_32211393del" "" "" "" "DEPDC5(NM_001242896.3):c.1666+192_1666+195delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31815404_31815407del" "" "likely benign" "" "0000267315" "0" "30" "22" "32211393" "32211393" "del" "0" "02325" "DEPDC5_000083" "g.32211393del" "" "" "" "DEPDC5(NM_001242896.3):c.1666+195delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31815407del" "" "likely benign" "" "0000270694" "0" "30" "22" "32198968" "32198968" "subst" "0" "02326" "DEPDC5_000062" "g.32198968G>A" "" "" "" "DEPDC5(NM_001242896.3):c.1081+144G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31802982G>A" "" "likely benign" "" "0000270695" "0" "30" "22" "32198868" "32198868" "subst" "0.00174975" "02326" "DEPDC5_000061" "g.32198868C>A" "" "" "" "DEPDC5(NM_001242896.3):c.1081+44C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31802882C>A" "" "likely benign" "" "0000270696" "0" "30" "22" "32200041" "32200041" "subst" "0" "02326" "DEPDC5_000063" "g.32200041G>A" "" "" "" "DEPDC5(NM_001242896.3):c.1082-107G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31804055G>A" "" "likely benign" "" "0000270697" "0" "10" "22" "32200161" "32200161" "subst" "0.020117" "02326" "DEPDC5_000064" "g.32200161T>C" "" "" "" "DEPDC5(NM_001242896.3):c.1095T>C (p.D365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31804175T>C" "" "benign" "" "0000270698" "0" "30" "22" "32200255" "32200255" "subst" "4.50831E-5" "02326" "DEPDC5_000066" "g.32200255G>C" "" "" "" "DEPDC5(NM_001242896.3):c.1143+46G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31804269G>C" "" "likely benign" "" "0000270699" "0" "30" "22" "32200301" "32200301" "subst" "0" "02326" "DEPDC5_000067" "g.32200301C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1143+92C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31804315C>T" "" "likely benign" "" "0000270701" "0" "10" "22" "32200849" "32200849" "subst" "0.0222751" "02326" "DEPDC5_000069" "g.32200849C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1165C>T (p.R389C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31804863C>T" "" "benign" "" "0000270702" "0" "30" "22" "32202095" "32202098" "del" "0" "02326" "DEPDC5_000071" "g.32202095_32202098del" "" "" "" "DEPDC5(NM_001242896.3):c.1218-13_1218-10delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31806109_31806112del" "" "likely benign" "" "0000270703" "0" "10" "22" "32205541" "32205541" "subst" "0" "02326" "DEPDC5_000073" "g.32205541G>A" "" "" "" "DEPDC5(NM_001242896.3):c.1288-56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31809555G>A" "" "benign" "" "0000270704" "0" "30" "22" "32205600" "32205600" "subst" "0.000264163" "02326" "DEPDC5_000074" "g.32205600G>T" "" "" "" "DEPDC5(NM_001242896.3):c.1291G>T (p.A431S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31809614G>T" "" "likely benign" "" "0000270705" "0" "30" "22" "32206512" "32206512" "subst" "0.000857187" "02326" "DEPDC5_000007" "g.32206512G>A" "" "" "" "DEPDC5(NM_001242896.2):c.1330G>A (p.G444R), DEPDC5(NM_001242896.3):c.1330G>A (p.G444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31810526G>A" "" "likely benign" "" "0000270706" "0" "30" "22" "32206565" "32206565" "subst" "0" "02326" "DEPDC5_000075" "g.32206565C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1383C>T (p.A461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31810579C>T" "" "likely benign" "" "0000270707" "0" "30" "22" "32206743" "32206743" "subst" "0" "02326" "DEPDC5_000077" "g.32206743C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1445+116C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31810757C>T" "" "likely benign" "" "0000270708" "0" "30" "22" "32156521" "32156521" "subst" "0" "02326" "DEPDC5_000028" "g.32156521C>T" "" "" "" "DEPDC5(NM_001242896.3):c.147-121C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31760535C>T" "" "likely benign" "" "0000270709" "0" "10" "22" "32156608" "32156608" "subst" "0.016807" "02326" "DEPDC5_000030" "g.32156608G>A" "" "" "" "DEPDC5(NM_001242896.3):c.147-34G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31760622G>A" "" "benign" "" "0000270710" "0" "10" "22" "32156586" "32156586" "subst" "0" "02326" "DEPDC5_000029" "g.32156586T>A" "" "" "" "DEPDC5(NM_001242896.3):c.147-56T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31760600T>A" "" "benign" "" "0000270711" "0" "30" "22" "32211004" "32211004" "subst" "0.00869095" "02326" "DEPDC5_000078" "g.32211004G>C" "" "" "" "DEPDC5(NM_001242896.3):c.1472G>C (p.S491T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31815018G>C" "" "likely benign" "" "0000270712" "0" "90" "22" "32211195" "32211195" "subst" "0" "02326" "DEPDC5_000080" "g.32211195C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1663C>T (p.R555*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31815209C>T" "" "pathogenic" "" "0000270713" "0" "30" "22" "32211339" "32211339" "subst" "0" "02326" "DEPDC5_000081" "g.32211339C>G" "" "" "" "DEPDC5(NM_001242896.3):c.1666+141C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31815353C>G" "" "likely benign" "" "0000270714" "0" "10" "22" "32217539" "32217539" "subst" "0.0351977" "02326" "DEPDC5_000085" "g.32217539C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1922C>T (p.A641V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31821553C>T" "" "benign" "" "0000270715" "0" "30" "22" "32160944" "32160944" "subst" "0" "02326" "DEPDC5_000032" "g.32160944T>A" "" "" "" "DEPDC5(NM_001242896.3):c.194-17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31764958T>A" "" "likely benign" "" "0000270716" "0" "30" "22" "32218545" "32218545" "subst" "0" "02326" "DEPDC5_000086" "g.32218545G>T" "" "" "" "DEPDC5(NM_001242896.3):c.2007-134G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31822559G>T" "" "likely benign" "" "0000270717" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02326" "DEPDC5_000010" "g.32218692C>T" "" "" "" "DEPDC5(NM_001242896.1):c.2020C>T (p.(Arg674Cys)), DEPDC5(NM_001242896.3):c.2020C>T (p.R674C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000270718" "0" "30" "22" "32218707" "32218707" "subst" "9.75872E-5" "02326" "DEPDC5_000087" "g.32218707G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2035G>A (p.(Gly679Ser), p.G679S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31822721G>A" "" "likely benign" "" "0000270719" "0" "10" "22" "32218727" "32218727" "subst" "0.0169178" "02326" "DEPDC5_000088" "g.32218727C>A" "" "" "" "DEPDC5(NM_001136029.2):c.2055C>A (p.(Phe685Leu)), DEPDC5(NM_001242896.3):c.2055C>A (p.F685L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31822741C>A" "" "benign" "" "0000270720" "0" "30" "22" "32218744" "32218744" "subst" "0.000654647" "02326" "DEPDC5_000089" "g.32218744T>C" "" "" "" "DEPDC5(NM_001242896.3):c.2072T>C (p.L691P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31822758T>C" "" "likely benign" "" "0000270721" "0" "30" "22" "32218747" "32218747" "subst" "0.000650682" "02326" "DEPDC5_000090" "g.32218747C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2075C>T (p.S692F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31822761C>T" "" "likely benign" "" "0000270722" "0" "10" "22" "32222383" "32222383" "subst" "0" "02326" "DEPDC5_000091" "g.32222383T>C" "" "" "" "DEPDC5(NM_001242896.3):c.2104+3607T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826397T>C" "" "benign" "" "0000270723" "0" "30" "22" "32222614" "32222614" "subst" "0" "02326" "DEPDC5_000092" "g.32222614C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2104+3838C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826628C>T" "" "likely benign" "" "0000270724" "0" "30" "22" "32229931" "32229931" "subst" "0.00858609" "02326" "DEPDC5_000012" "g.32229931C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2135C>T (p.S712F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31833945C>T" "" "likely benign" "" "0000270725" "0" "30" "22" "32230099" "32230099" "subst" "0" "02326" "DEPDC5_000096" "g.32230099C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2170+133C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31834113C>T" "" "likely benign" "" "0000270726" "0" "30" "22" "32229990" "32229990" "subst" "0.00142602" "02326" "DEPDC5_000094" "g.32229990G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2170+24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31834004G>A" "" "likely benign" "" "0000270727" "0" "30" "22" "32230063" "32230063" "subst" "0" "02326" "DEPDC5_000095" "g.32230063G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2170+97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31834077G>A" "" "likely benign" "" "0000270728" "0" "30" "22" "32233028" "32233028" "subst" "0.00857315" "02326" "DEPDC5_000098" "g.32233028C>G" "" "" "" "DEPDC5(NM_001242896.3):c.2241C>G (p.L747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31837042C>G" "" "likely benign" "" "0000270729" "0" "10" "22" "32233270" "32233272" "del" "0" "02326" "DEPDC5_000099" "g.32233270_32233272del" "" "" "" "DEPDC5(NM_001242896.3):c.2354+129_2354+131delGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31837284_31837286del" "" "benign" "" "0000270730" "0" "10" "22" "32234797" "32234797" "subst" "0.0168171" "02326" "DEPDC5_000100" "g.32234797G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2481G>A (p.P827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31838811G>A" "" "benign" "" "0000270731" "0" "90" "22" "32234828" "32234828" "subst" "0" "02326" "DEPDC5_000101" "g.32234828C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2512C>T (p.R838*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31838842C>T" "" "pathogenic" "" "0000270732" "0" "10" "22" "32234906" "32234906" "subst" "0" "02326" "DEPDC5_000102" "g.32234906G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2515+75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31838920G>A" "" "benign" "" "0000270733" "0" "90" "22" "32239092" "32239092" "subst" "4.08774E-6" "02326" "DEPDC5_000106" "g.32239092C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2527C>T (p.R843*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31843106C>T" "" "pathogenic" "" "0000270734" "0" "70" "22" "32239156" "32239156" "subst" "0.000101543" "02326" "DEPDC5_000107" "g.32239156C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2591C>T (p.T864M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31843170C>T" "" "likely pathogenic" "" "0000270735" "0" "10" "22" "32239363" "32239363" "subst" "0" "02326" "DEPDC5_000108" "g.32239363C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2633+165C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31843377C>T" "" "benign" "" "0000270736" "0" "30" "22" "32239609" "32239609" "subst" "0" "02326" "DEPDC5_000109" "g.32239609G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2634-22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31843623G>A" "" "likely benign" "" "0000270737" "0" "10" "22" "32239739" "32239739" "subst" "0.0119276" "02326" "DEPDC5_000110" "g.32239739G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2742G>A (p.E914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31843753G>A" "" "benign" "" "0000270738" "0" "30" "22" "32161216" "32161216" "subst" "0" "02326" "DEPDC5_000034" "g.32161216T>G" "" "" "" "DEPDC5(NM_001242896.3):c.279+170T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31765230T>G" "" "likely benign" "" "0000270739" "0" "30" "22" "32162490" "32162490" "subst" "0" "02326" "DEPDC5_000035" "g.32162490T>C" "" "" "" "DEPDC5(NM_001242896.3):c.280-81T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31766504T>C" "" "likely benign" "" "0000270740" "0" "30" "22" "32242701" "32242701" "del" "0" "02326" "DEPDC5_000112" "g.32242701del" "" "" "" "DEPDC5(NM_001242896.3):c.3022-119delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31846715del" "" "likely benign" "" "0000270741" "0" "30" "22" "32242867" "32242867" "subst" "2.84278E-5" "02326" "DEPDC5_000113" "g.32242867G>A" "" "" "" "DEPDC5(NM_001242896.3):c.3069G>A (p.T1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31846881G>A" "" "likely benign" "" "0000270742" "0" "30" "22" "32253378" "32253378" "subst" "0" "02326" "DEPDC5_000114" "g.32253378C>A" "" "" "" "DEPDC5(NM_001242896.3):c.3156-53C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31857392C>A" "" "likely benign" "" "0000270743" "0" "30" "22" "32253668" "32253668" "subst" "0" "02326" "DEPDC5_000118" "g.32253668C>T" "" "" "" "DEPDC5(NM_001242896.3):c.3264+129C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31857682C>T" "" "likely benign" "" "0000270744" "0" "50" "22" "32266706" "32266706" "subst" "7.78495E-5" "02326" "DEPDC5_000121" "g.32266706C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3461C>T (p.S1154F), DEPDC5(NM_001242896.3):c.3461C>T (p.S1154F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31870720C>T" "" "VUS" "" "0000270745" "0" "50" "22" "32269302" "32269302" "subst" "4.47002E-5" "02326" "DEPDC5_000123" "g.32269302G>A" "" "" "" "DEPDC5(NM_001242896.3):c.3547G>A (p.A1183T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31873316G>A" "" "VUS" "" "0000270746" "0" "30" "22" "32269346" "32269346" "subst" "0.00059515" "02326" "DEPDC5_000124" "g.32269346G>A" "" "" "" "DEPDC5(NM_001242896.3):c.3563+28G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31873360G>A" "" "likely benign" "" "0000270747" "0" "30" "22" "32162673" "32162673" "del" "0" "02326" "DEPDC5_000036" "g.32162673del" "" "" "" "DEPDC5(NM_001242896.3):c.363+19delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31766687del" "" "likely benign" "" "0000270748" "0" "30" "22" "32162668" "32162668" "subst" "0.000111004" "02326" "DEPDC5_000037" "g.32162668T>A" "" "" "" "DEPDC5(NM_001242896.3):c.363+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31766682T>A" "" "likely benign" "" "0000270749" "0" "30" "22" "32162839" "32162839" "subst" "0" "02326" "DEPDC5_000038" "g.32162839T>A" "" "" "" "DEPDC5(NM_001242896.3):c.363+185T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31766853T>A" "" "likely benign" "" "0000270750" "0" "10" "22" "32164790" "32164790" "subst" "0" "02326" "DEPDC5_000040" "g.32164790C>T" "" "" "" "DEPDC5(NM_001242896.3):c.364-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31768804C>T" "" "benign" "" "0000270751" "0" "30" "22" "32270401" "32270401" "subst" "4.27595E-6" "02326" "DEPDC5_000127" "g.32270401C>A" "" "" "" "DEPDC5(NM_001242896.2):c.3696+10C>A, DEPDC5(NM_001242896.3):c.3696+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31874415C>A" "" "likely benign" "" "0000270752" "0" "30" "22" "32270538" "32270538" "subst" "0" "02326" "DEPDC5_000129" "g.32270538T>A" "" "" "" "DEPDC5(NM_001242896.3):c.3696+147T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31874552T>A" "" "likely benign" "" "0000270753" "0" "30" "22" "32270409" "32270409" "subst" "0.00339661" "02326" "DEPDC5_000128" "g.32270409G>A" "" "" "" "DEPDC5(NM_001242896.3):c.3696+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31874423G>A" "" "likely benign" "" "0000270754" "0" "90" "22" "32270396" "32270396" "subst" "0" "02326" "DEPDC5_000126" "g.32270396G>A" "" "" "" "DEPDC5(NM_001242896.3):c.3696+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31874410G>A" "" "pathogenic" "" "0000270756" "0" "70" "22" "32275699" "32275699" "subst" "0" "02326" "DEPDC5_000131" "g.32275699C>T" "" "" "" "DEPDC5(NM_001242896.3):c.3994C>T (p.R1332*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31879713C>T" "" "likely pathogenic" "" "0000270757" "0" "30" "22" "32173961" "32173961" "subst" "0" "02326" "DEPDC5_000041" "g.32173961T>C" "" "" "" "DEPDC5(NM_001242896.3):c.414-124T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31777975T>C" "" "likely benign" "" "0000270758" "0" "30" "22" "32173990" "32173990" "subst" "0" "02326" "DEPDC5_000042" "g.32173990T>C" "" "" "" "DEPDC5(NM_001242896.3):c.414-95T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31778004T>C" "" "likely benign" "" "0000270759" "0" "90" "22" "32174106" "32174106" "subst" "0" "02326" "DEPDC5_000043" "g.32174106G>A" "" "" "" "DEPDC5(NM_001242896.3):c.435G>A (p.W145*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31778120G>A" "" "pathogenic" "" "0000270760" "0" "10" "22" "32293751" "32293751" "subst" "0" "02326" "DEPDC5_000134" "g.32293751C>G" "" "" "" "DEPDC5(NM_001242896.3):c.4375+112C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31897765C>G" "" "benign" "" "0000270761" "0" "30" "22" "32293664" "32293664" "subst" "0.000360824" "02326" "DEPDC5_000132" "g.32293664T>G" "" "" "" "DEPDC5(NM_001242896.3):c.4375+25T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31897678T>G" "" "likely benign" "" "0000270762" "0" "30" "22" "32293685" "32293685" "subst" "5.50875E-5" "02326" "DEPDC5_000133" "g.32293685C>T" "" "" "" "DEPDC5(NM_001242896.3):c.4375+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31897699C>T" "" "likely benign" "" "0000270763" "0" "10" "22" "32297621" "32297621" "subst" "0" "02326" "DEPDC5_000136" "g.32297621T>G" "" "" "" "DEPDC5(NM_001242896.3):c.4376-107T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31901635T>G" "" "benign" "" "0000270764" "0" "30" "22" "32297598" "32297598" "subst" "0" "02326" "DEPDC5_000135" "g.32297598G>A" "" "" "" "DEPDC5(NM_001242896.3):c.4376-130G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31901612G>A" "" "likely benign" "" "0000270765" "0" "30" "22" "32301781" "32301781" "subst" "0" "02326" "DEPDC5_000137" "g.32301781G>A" "" "" "" "DEPDC5(NM_001242896.3):c.4437-189G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31905795G>A" "" "likely benign" "" "0000270766" "0" "30" "22" "32301887" "32301887" "subst" "0" "02326" "DEPDC5_000138" "g.32301887G>A" "" "" "" "DEPDC5(NM_001242896.3):c.4437-83G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31905901G>A" "" "likely benign" "" "0000270767" "0" "10" "22" "32302045" "32302045" "subst" "0.0177121" "02326" "DEPDC5_000139" "g.32302045C>T" "" "" "" "DEPDC5(NM_001242896.3):c.4512C>T (p.H1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31906059C>T" "" "benign" "" "0000270768" "0" "30" "22" "32302129" "32302129" "subst" "0" "02326" "DEPDC5_000140" "g.32302129C>A" "" "" "" "DEPDC5(NM_001242896.3):c.4520-62C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31906143C>A" "" "likely benign" "" "0000270769" "0" "30" "22" "32151132" "32151132" "subst" "0" "02326" "DEPDC5_000024" "g.32151132C>T" "" "" "" "DEPDC5(NM_001242896.3):c.58+167C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31755146C>T" "" "likely benign" "" "0000270770" "0" "30" "22" "32150985" "32150985" "del" "0" "02326" "DEPDC5_000021" "g.32150985del" "" "" "" "DEPDC5(NM_001242896.3):c.58+20delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31754999del" "" "likely benign" "" "0000270771" "0" "10" "22" "32151179" "32151179" "subst" "0" "02326" "DEPDC5_000026" "g.32151179G>A" "" "" "" "DEPDC5(NM_001242896.3):c.58+214G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31755193G>A" "" "benign" "" "0000270772" "0" "30" "22" "32151028" "32151028" "subst" "0" "02326" "DEPDC5_000022" "g.32151028C>G" "" "" "" "DEPDC5(NM_001242896.3):c.58+63C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31755042C>G" "" "likely benign" "" "0000270773" "0" "30" "22" "32154502" "32154502" "subst" "0.00218539" "02326" "DEPDC5_000027" "g.32154502T>C" "" "" "" "DEPDC5(NM_001242896.3):c.59-30T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31758516T>C" "" "likely benign" "" "0000270774" "0" "30" "22" "32188244" "32188244" "subst" "0" "02326" "DEPDC5_000048" "g.32188244G>A" "" "" "" "DEPDC5(NM_001242896.3):c.694+156G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31792258G>A" "" "likely benign" "" "0000270775" "0" "30" "22" "32188297" "32188297" "subst" "0" "02326" "DEPDC5_000049" "g.32188297T>C" "" "" "" "DEPDC5(NM_001242896.3):c.694+209T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31792311T>C" "" "likely benign" "" "0000270776" "0" "30" "22" "32188111" "32188111" "subst" "0.000627342" "02326" "DEPDC5_000046" "g.32188111C>T" "" "" "" "DEPDC5(NM_001242896.3):c.694+23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31792125C>T" "" "likely benign" "" "0000270777" "0" "30" "22" "32193849" "32193849" "subst" "0" "02326" "DEPDC5_000052" "g.32193849G>A" "" "" "" "DEPDC5(NM_001242896.3):c.871+160G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31797863G>A" "" "likely benign" "" "0000270778" "0" "30" "22" "32193856" "32193856" "subst" "0" "02326" "DEPDC5_000053" "g.32193856G>A" "" "" "" "DEPDC5(NM_001242896.3):c.871+167G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31797870G>A" "" "likely benign" "" "0000270779" "0" "10" "22" "32193878" "32193878" "subst" "0" "02326" "DEPDC5_000054" "g.32193878T>A" "" "" "" "DEPDC5(NM_001242896.3):c.871+189T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31797892T>A" "" "benign" "" "0000270780" "0" "70" "22" "32193690" "32193690" "subst" "0" "02326" "DEPDC5_000051" "g.32193690G>T" "" "" "" "DEPDC5(NM_001242896.3):c.871+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31797704G>T" "" "likely pathogenic" "" "0000270781" "0" "30" "22" "32194531" "32194531" "subst" "9.16155E-5" "02326" "DEPDC5_000056" "g.32194531T>C" "" "" "" "DEPDC5(NM_001242896.3):c.872-37T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31798545T>C" "" "likely benign" "" "0000270782" "0" "30" "22" "32194675" "32194675" "subst" "0" "02326" "DEPDC5_000058" "g.32194675T>C" "" "" "" "DEPDC5(NM_001242896.3):c.946+33T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31798689T>C" "" "likely benign" "" "0000270783" "0" "10" "22" "32194700" "32194700" "subst" "0" "02326" "DEPDC5_000059" "g.32194700G>A" "" "" "" "DEPDC5(NM_001242896.3):c.946+58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31798714G>A" "" "benign" "" "0000270784" "0" "30" "22" "32198614" "32198614" "subst" "0" "02326" "DEPDC5_000060" "g.32198614T>C" "" "" "" "DEPDC5(NM_001242896.3):c.947-76T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31802628T>C" "" "likely benign" "" "0000274934" "0" "30" "22" "32200215" "32200215" "subst" "4.06329E-6" "01943" "DEPDC5_000065" "g.32200215T>C" "" "" "" "DEPDC5(NM_001242896.2):c.1143+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31804229T>C" "" "likely benign" "" "0000274935" "0" "30" "22" "32202120" "32202120" "subst" "0.000134201" "01943" "DEPDC5_000072" "g.32202120C>G" "" "" "" "DEPDC5(NM_001242896.2):c.1230C>G (p.S410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31806134C>G" "" "likely benign" "" "0000274936" "0" "50" "22" "32211057" "32211057" "subst" "0.000337108" "01943" "DEPDC5_000009" "g.32211057C>T" "" "" "" "DEPDC5(NM_001242896.2):c.1525C>T (p.R509C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31815071C>T" "" "VUS" "" "0000274937" "0" "30" "22" "32211158" "32211158" "subst" "4.06263E-6" "01943" "DEPDC5_000079" "g.32211158G>A" "" "" "" "DEPDC5(NM_001242896.2):c.1626G>A (p.Q542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31815172G>A" "" "likely benign" "" "0000274938" "0" "30" "22" "32161019" "32161019" "subst" "0.000113733" "01943" "DEPDC5_000033" "g.32161019T>C" "" "" "" "DEPDC5(NM_001242896.2):c.252T>C (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31765033T>C" "" "likely benign" "" "0000274939" "0" "30" "22" "32270401" "32270401" "subst" "4.27595E-6" "01943" "DEPDC5_000127" "g.32270401C>A" "" "" "" "DEPDC5(NM_001242896.2):c.3696+10C>A, DEPDC5(NM_001242896.3):c.3696+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31874415C>A" "" "likely benign" "" "0000274940" "0" "50" "22" "32174159" "32174159" "subst" "0" "01943" "DEPDC5_000044" "g.32174159G>C" "" "" "" "DEPDC5(NM_001242896.2):c.483+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31778173G>C" "" "VUS" "" "0000328983" "0" "50" "22" "32253522" "32253522" "subst" "2.08796E-5" "01804" "DEPDC5_000116" "g.32253522A>C" "" "" "" "DEPDC5(NM_001136029.2):c.3220A>C (p.(Met1074Leu)), DEPDC5(NM_001242896.2):c.3247A>C (p.M1083L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31857536A>C" "" "VUS" "" "0000341165" "0" "50" "22" "32289717" "32289717" "subst" "7.49844E-5" "02327" "DEPDC5_000148" "g.32289717G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31893731G>A" "" "VUS" "" "0000343408" "0" "90" "22" "32234828" "32234828" "subst" "0" "02327" "DEPDC5_000101" "g.32234828C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2512C>T (p.R838*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31838842C>T" "" "pathogenic" "" "0000343477" "0" "50" "22" "32239732" "32239732" "subst" "0" "02327" "DEPDC5_000144" "g.32239732G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31843746G>T" "" "VUS" "" "0000343610" "0" "50" "22" "32302311" "32302311" "subst" "0" "02327" "DEPDC5_000150" "g.32302311A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31906325A>G" "" "VUS" "" "0000348647" "0" "90" "22" "32253499" "32253499" "subst" "4.14041E-6" "02327" "DEPDC5_000145" "g.32253499G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31857513G>A" "" "pathogenic" "" "0000348657" "0" "30" "22" "32257400" "32257400" "subst" "0.000198444" "02327" "DEPDC5_000146" "g.32257400C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3311C>T (p.S1104L), DEPDC5(NM_001242896.3):c.3311C>T (p.S1104L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31861414C>T" "" "likely benign" "" "0000349276" "0" "50" "22" "32289591" "32289591" "subst" "0" "02327" "DEPDC5_000147" "g.32289591A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31893605A>G" "" "VUS" "" "0000350746" "0" "50" "22" "32229892" "32229892" "subst" "1.42792E-5" "02327" "DEPDC5_000143" "g.32229892T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31833906T>C" "" "VUS" "" "0000351107" "0" "70" "22" "32179972" "32179972" "subst" "0" "02327" "DEPDC5_000142" "g.32179972G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31783986G>A" "" "likely pathogenic" "" "0000465624" "0" "70" "22" "32293576" "32293576" "subst" "0" "03224" "DEPDC5_000155" "g.32293576C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.31897590C>T" "" "likely pathogenic" "" "0000499850" "0" "50" "22" "32161041" "32161041" "subst" "4.06392E-6" "01164" "DEPDC5_000156" "g.32161041C>T" "" "" "" "" "ACMG grading: PP3,PM2" "Germline" "" "" "0" "" "" "g.31765055C>T" "" "VUS" "ACMG" "0000571786" "0" "10" "22" "32156469" "32156469" "subst" "0" "02326" "DEPDC5_000157" "g.32156469C>T" "" "" "" "DEPDC5(NM_001242896.3):c.147-173C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31760483C>T" "" "benign" "" "0000571787" "0" "50" "22" "32162655" "32162655" "subst" "0" "01943" "DEPDC5_000158" "g.32162655G>T" "" "" "" "DEPDC5(NM_001242896.2):c.363+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31766669G>T" "" "VUS" "" "0000571788" "0" "30" "22" "32162660" "32162661" "del" "0.000446813" "02326" "DEPDC5_000159" "g.32162660_32162661del" "" "" "" "DEPDC5(NM_001242896.2):c.363+6_363+7delAT, DEPDC5(NM_001242896.3):c.363+6_363+7del, DEPDC5(NM_001242896.3):c.363+6_363+7delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31766674_31766675del" "" "likely benign" "" "0000571789" "0" "30" "22" "32193632" "32193632" "subst" "0.00226744" "01943" "DEPDC5_000004" "g.32193632G>A" "" "" "" "DEPDC5(NM_001242896.2):c.814G>A (p.V272I), DEPDC5(NM_001242896.3):c.814G>A (p.V272I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31797646G>A" "" "likely benign" "" "0000571790" "0" "30" "22" "32200726" "32200726" "dup" "0" "02326" "DEPDC5_000160" "g.32200726dup" "" "" "" "DEPDC5(NM_001242896.3):c.1144-102dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31804740dup" "" "likely benign" "" "0000571792" "0" "50" "22" "32206566" "32206566" "subst" "0" "01943" "DEPDC5_000161" "g.32206566T>C" "" "" "" "DEPDC5(NM_001242896.2):c.1384T>C (p.Y462H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31810580T>C" "" "VUS" "" "0000571793" "0" "30" "22" "32211132" "32211132" "subst" "0" "01804" "DEPDC5_000162" "g.32211132A>C" "" "" "" "DEPDC5(NM_001007188.2):c.1600A>C (p.(Met534Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31815146A>C" "" "likely benign" "" "0000571794" "0" "50" "22" "32211202" "32211202" "subst" "0" "02327" "DEPDC5_000163" "g.32211202A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31815216A>G" "" "VUS" "" "0000571796" "0" "30" "22" "32215260" "32215260" "dup" "0" "02326" "DEPDC5_000165" "g.32215260dup" "" "" "" "DEPDC5(NM_001242896.3):c.1870+49dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31819274dup" "" "likely benign" "" "0000571797" "0" "30" "22" "32218682" "32218682" "subst" "0.000113951" "02327" "DEPDC5_000166" "g.32218682C>A" "" "" "" "DEPDC5(NM_001242896.2):c.2010C>A (p.H670Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31822696C>A" "" "likely benign" "" "0000571798" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "01804" "DEPDC5_000010" "g.32218692C>T" "" "" "" "DEPDC5(NM_001242896.1):c.2020C>T (p.(Arg674Cys)), DEPDC5(NM_001242896.3):c.2020C>T (p.R674C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31822706C>T" "" "likely benign" "" "0000571799" "0" "30" "22" "32218727" "32218727" "subst" "0.0169178" "01804" "DEPDC5_000088" "g.32218727C>A" "" "" "" "DEPDC5(NM_001136029.2):c.2055C>A (p.(Phe685Leu)), DEPDC5(NM_001242896.3):c.2055C>A (p.F685L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31822741C>A" "" "likely benign" "" "0000571800" "0" "30" "22" "32222379" "32222379" "subst" "0" "02326" "DEPDC5_000167" "g.32222379G>C" "" "" "" "DEPDC5(NM_001242896.3):c.2104+3603G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826393G>C" "" "likely benign" "" "0000571801" "0" "30" "22" "32222379" "32222379" "subst" "0" "02326" "DEPDC5_000168" "g.32222379G>T" "" "" "" "DEPDC5(NM_001242896.3):c.2104+3603G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826393G>T" "" "likely benign" "" "0000571802" "0" "10" "22" "32222653" "32222653" "subst" "0" "02326" "DEPDC5_000169" "g.32222653A>T" "" "" "" "DEPDC5(NM_001242896.3):c.2104+3877A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826667A>T" "" "benign" "" "0000571804" "0" "50" "22" "32232949" "32232949" "subst" "1.23578E-5" "01943" "DEPDC5_000171" "g.32232949G>A" "" "" "" "DEPDC5(NM_001242896.2):c.2171-9G>A, DEPDC5(NM_001242896.3):c.2171-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31836963G>A" "" "VUS" "" "0000571805" "0" "30" "22" "32232949" "32232949" "subst" "1.23578E-5" "02326" "DEPDC5_000171" "g.32232949G>A" "" "" "" "DEPDC5(NM_001242896.2):c.2171-9G>A, DEPDC5(NM_001242896.3):c.2171-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31836963G>A" "" "likely benign" "" "0000571806" "0" "30" "22" "32232990" "32232990" "subst" "0" "01804" "DEPDC5_000172" "g.32232990G>A" "" "" "" "DEPDC5(NM_001136029.2):c.2176G>A (p.(Gly726Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31837004G>A" "" "likely benign" "" "0000571807" "0" "30" "22" "32233169" "32233169" "subst" "0.000561273" "02326" "DEPDC5_000173" "g.32233169C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2354+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31837183C>T" "" "likely benign" "" "0000571808" "0" "50" "22" "32239084" "32239084" "subst" "2.04844E-5" "02327" "DEPDC5_000174" "g.32239084T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31843098T>C" "" "VUS" "" "0000571809" "0" "10" "22" "32241058" "32241058" "subst" "0.000914069" "02326" "DEPDC5_000175" "g.32241058T>C" "" "" "" "DEPDC5(NM_001242896.3):c.2856T>C (p.C952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31845072T>C" "" "benign" "" "0000571810" "0" "30" "22" "32242804" "32242804" "subst" "0.000101549" "02326" "DEPDC5_000176" "g.32242804C>T" "" "" "" "DEPDC5(NM_001242896.3):c.3022-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31846818C>T" "" "likely benign" "" "0000571811" "0" "30" "22" "32242883" "32242883" "subst" "3.65494E-5" "01943" "DEPDC5_000177" "g.32242883A>G" "" "" "" "DEPDC5(NM_001242896.2):c.3085A>G (p.T1029A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31846897A>G" "" "likely benign" "" "0000571812" "0" "30" "22" "32257351" "32257351" "subst" "0.000848593" "01943" "DEPDC5_000015" "g.32257351C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3265-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31861365C>T" "" "likely benign" "" "0000571813" "0" "50" "22" "32257400" "32257400" "subst" "0.000198444" "01943" "DEPDC5_000146" "g.32257400C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3311C>T (p.S1104L), DEPDC5(NM_001242896.3):c.3311C>T (p.S1104L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31861414C>T" "" "VUS" "" "0000571814" "0" "30" "22" "32266603" "32266603" "subst" "0.0212395" "01804" "DEPDC5_000120" "g.32266603A>G" "" "" "" "DEPDC5(NM_001136029.2):c.3331A>G (p.(Met1111Val)), DEPDC5(NM_001242896.3):c.3358A>G (p.M1120V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31870617A>G" "" "likely benign" "" "0000571815" "0" "50" "22" "32269270" "32269270" "subst" "4.06204E-6" "01943" "DEPDC5_000178" "g.32269270C>A" "" "" "" "DEPDC5(NM_001242896.2):c.3515C>A (p.T1172N), DEPDC5(NM_001242896.3):c.3515C>A (p.T1172N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31873284C>A" "" "VUS" "" "0000571816" "0" "30" "22" "32269270" "32269270" "subst" "4.06204E-6" "02326" "DEPDC5_000178" "g.32269270C>A" "" "" "" "DEPDC5(NM_001242896.2):c.3515C>A (p.T1172N), DEPDC5(NM_001242896.3):c.3515C>A (p.T1172N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31873284C>A" "" "likely benign" "" "0000571817" "0" "50" "22" "32270326" "32270326" "subst" "0" "02327" "DEPDC5_000179" "g.32270326G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31874340G>C" "" "VUS" "" "0000571818" "0" "50" "22" "32272251" "32272251" "subst" "0" "02327" "DEPDC5_000180" "g.32272251G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31876265G>T" "" "VUS" "" "0000571819" "0" "30" "22" "32272376" "32272377" "ins" "0" "02326" "DEPDC5_000181" "g.32272376_32272377insG" "" "" "" "DEPDC5(NM_001242896.3):c.3805+125_3805+126insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31876390_31876391insG" "" "likely benign" "" "0000571820" "0" "30" "22" "32272413" "32272413" "subst" "0" "02326" "DEPDC5_000182" "g.32272413C>A" "" "" "" "DEPDC5(NM_001242896.3):c.3805+162C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31876427C>A" "" "likely benign" "" "0000571821" "0" "70" "22" "32302189" "32302189" "subst" "0" "02326" "DEPDC5_000183" "g.32302189A>G" "" "" "" "DEPDC5(NM_001242896.3):c.4520-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31906203A>G" "" "likely pathogenic" "" "0000571822" "0" "30" "22" "32302497" "32302498" "ins" "0" "02326" "DEPDC5_000184" "g.32302497_32302498insAGGGTTAGAAGGCTGCACC" "" "" "" "DEPDC5(NM_001242896.3):c.*4_*5insAGGCTGCACCAGGGTTAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31906511_31906512insAGGGTTAGAAGGCTGCACC" "" "likely benign" "" "0000618559" "0" "50" "22" "32217575" "32217575" "dup" "0" "02327" "DEPDC5_000185" "g.32217575dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31821589dup" "" "VUS" "" "0000618560" "0" "30" "22" "32218692" "32218692" "subst" "0.00219673" "02325" "DEPDC5_000010" "g.32218692C>T" "" "" "" "DEPDC5(NM_001242896.1):c.2020C>T (p.(Arg674Cys)), DEPDC5(NM_001242896.3):c.2020C>T (p.R674C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31822706C>T" "" "likely benign" "" "0000618563" "0" "50" "22" "32257400" "32257400" "subst" "0.000198444" "02325" "DEPDC5_000146" "g.32257400C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3311C>T (p.S1104L), DEPDC5(NM_001242896.3):c.3311C>T (p.S1104L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31861414C>T" "" "VUS" "" "0000618564" "0" "50" "22" "32266706" "32266706" "subst" "7.78495E-5" "02325" "DEPDC5_000121" "g.32266706C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3461C>T (p.S1154F), DEPDC5(NM_001242896.3):c.3461C>T (p.S1154F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31870720C>T" "" "VUS" "" "0000618565" "0" "30" "22" "32270262" "32270262" "subst" "0.000676289" "01943" "DEPDC5_000125" "g.32270262A>G" "" "" "" "DEPDC5(NM_001242896.2):c.3567A>G (p.T1189=), DEPDC5(NM_001242896.3):c.3567A>G (p.T1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31874276A>G" "" "likely benign" "" "0000650950" "1" "10" "22" "32200849" "32200849" "subst" "0.0222751" "03575" "DEPDC5_000069" "g.32200849C>T" "55/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "55 heterozygous, no homozygous; {DB:CLININrs41311139}" "Germline" "" "rs41311139" "0" "" "" "g.31804863C>T" "" "benign" "" "0000650951" "1" "30" "22" "32218692" "32218692" "subst" "0.00219673" "03575" "DEPDC5_000010" "g.32218692C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs181347577}" "Germline" "" "rs181347577" "0" "" "" "g.31822706C>T" "" "likely benign" "" "0000650952" "1" "10" "22" "32218727" "32218727" "subst" "0.0169178" "03575" "DEPDC5_000088" "g.32218727C>A" "106/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "106 heterozygous; {DB:CLININrs61731667}" "Germline" "" "rs61731667" "0" "" "" "g.31822741C>A" "" "benign" "" "0000650953" "1" "10" "22" "32229931" "32229931" "subst" "0.00858609" "03575" "DEPDC5_000012" "g.32229931C>T" "43/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 heterozygous; {DB:CLININrs16989535}" "Germline" "" "rs16989535" "0" "" "" "g.31833945C>T" "" "benign" "" "0000650954" "1" "10" "22" "32239739" "32239739" "subst" "0.0119276" "03575" "DEPDC5_000110" "g.32239739G>A" "49/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous, no homozygous; {DB:CLININrs118001924}" "Germline" "" "rs118001924" "0" "" "" "g.31843753G>A" "" "benign" "" "0000650955" "1" "10" "22" "32266603" "32266603" "subst" "0.0212395" "03575" "DEPDC5_000120" "g.32266603A>G" "124/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "124 heterozygous; {DB:CLININrs61731662}" "Germline" "" "rs61731662" "0" "" "" "g.31870617A>G" "" "benign" "" "0000650956" "1" "10" "22" "32302045" "32302045" "subst" "0.0177121" "03575" "DEPDC5_000139" "g.32302045C>T" "121/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "121 heterozygous; {DB:CLININrs146449468}" "Germline" "" "rs146449468" "0" "" "" "g.31906059C>T" "" "benign" "" "0000653052" "1" "30" "22" "32193632" "32193632" "subst" "0.00226744" "03575" "DEPDC5_000004" "g.32193632G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs187334123}" "Germline" "" "rs187334123" "0" "" "" "g.31797646G>A" "" "likely benign" "" "0000653430" "0" "50" "22" "32239762" "32239782" "del" "0" "01164" "DEPDC5_000187" "g.32239762_32239782del" "" "" "" "" "ACMG: PM2,PM4" "Germline" "" "" "0" "" "" "g.31843776_31843796del" "" "VUS" "ACMG" "0000658928" "0" "30" "22" "32242953" "32242953" "subst" "9.74714E-5" "02325" "DEPDC5_000188" "g.32242953A>G" "" "" "" "DEPDC5(NM_001242896.2):c.3155A>G (p.K1052R), DEPDC5(NM_001242896.3):c.3155A>G (p.K1052R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31846967A>G" "" "likely benign" "" "0000658929" "0" "50" "22" "32270378" "32270378" "subst" "0.000459034" "01943" "DEPDC5_000189" "g.32270378T>C" "" "" "" "DEPDC5(NM_001242896.2):c.3683T>C (p.I1228T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31874392T>C" "" "VUS" "" "0000667358" "11" "70" "22" "32302307" "32302307" "subst" "0" "00006" "DEPDC5_000190" "g.32302307T>C" "" "{PMID:Burger 2017:29075622}" "" "Y1546H" "possible incomplete penetrance (unaffected father)" "Germline" "" "" "0" "" "" "g.31906321T>C" "" "likely pathogenic (!)" "" "0000669713" "3" "10" "22" "32218727" "32218727" "subst" "0.0169178" "03575" "DEPDC5_000088" "g.32218727C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61731667}" "Germline" "" "rs61731667" "0" "" "" "g.31822741C>A" "" "benign" "" "0000669714" "3" "10" "22" "32229931" "32229931" "subst" "0.00858609" "03575" "DEPDC5_000012" "g.32229931C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs16989535}" "Germline" "" "rs16989535" "0" "" "" "g.31833945C>T" "" "benign" "" "0000669715" "3" "10" "22" "32266603" "32266603" "subst" "0.0212395" "03575" "DEPDC5_000120" "g.32266603A>G" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61731662}" "Germline" "" "rs61731662" "0" "" "" "g.31870617A>G" "" "benign" "" "0000669716" "3" "10" "22" "32302045" "32302045" "subst" "0.0177121" "03575" "DEPDC5_000139" "g.32302045C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs146449468}" "Germline" "" "rs146449468" "0" "" "" "g.31906059C>T" "" "benign" "" "0000681854" "0" "30" "22" "32162660" "32162661" "del" "0.000446813" "01943" "DEPDC5_000159" "g.32162660_32162661del" "" "" "" "DEPDC5(NM_001242896.2):c.363+6_363+7delAT, DEPDC5(NM_001242896.3):c.363+6_363+7del, DEPDC5(NM_001242896.3):c.363+6_363+7delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681855" "0" "30" "22" "32180846" "32180846" "subst" "5.29355E-5" "02326" "DEPDC5_000191" "g.32180846A>G" "" "" "" "DEPDC5(NM_001242896.3):c.609A>G (p.L203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681856" "0" "30" "22" "32205630" "32205630" "subst" "0.000341433" "02326" "DEPDC5_000192" "g.32205630A>G" "" "" "" "DEPDC5(NM_001242896.3):c.1321A>G (p.T441A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681857" "0" "50" "22" "32234745" "32234745" "subst" "0" "01943" "DEPDC5_000193" "g.32234745G>T" "" "" "" "DEPDC5(NM_001242896.2):c.2429G>T (p.G810V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681858" "0" "50" "22" "32253462" "32253462" "subst" "0" "01804" "DEPDC5_000194" "g.32253462G>T" "" "" "" "DEPDC5(NM_001242896.1):c.3187G>T (p.(Gly1063Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684819" "0" "30" "22" "32242890" "32242890" "subst" "0.000511692" "00004" "DEPDC5_000195" "g.32242890C>A" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.31846904C>A" "" "likely benign" "" "0000693161" "0" "50" "22" "32206512" "32206512" "subst" "0.000857187" "01943" "DEPDC5_000007" "g.32206512G>A" "" "" "" "DEPDC5(NM_001242896.2):c.1330G>A (p.G444R), DEPDC5(NM_001242896.3):c.1330G>A (p.G444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693162" "0" "30" "22" "32239806" "32239806" "subst" "0.000403334" "01943" "DEPDC5_000196" "g.32239806A>G" "" "" "" "DEPDC5(NM_001242896.2):c.2801+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693163" "0" "30" "22" "32266566" "32266566" "del" "7.22413E-5" "01943" "DEPDC5_000197" "g.32266566del" "" "" "" "DEPDC5(NM_001242896.2):c.3331-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693164" "0" "90" "22" "32269244" "32269244" "del" "0" "01943" "DEPDC5_000198" "g.32269244del" "" "" "" "DEPDC5(NM_001242896.2):c.3489delT (p.Q1164Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728112" "0" "30" "22" "32179913" "32179913" "subst" "2.43982E-5" "01943" "DEPDC5_000199" "g.32179913G>A" "" "" "" "DEPDC5(NM_001242896.2):c.504G>A (p.S168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728113" "0" "30" "22" "32193632" "32193632" "subst" "0.00226744" "02326" "DEPDC5_000004" "g.32193632G>A" "" "" "" "DEPDC5(NM_001242896.2):c.814G>A (p.V272I), DEPDC5(NM_001242896.3):c.814G>A (p.V272I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728114" "0" "30" "22" "32218682" "32218682" "subst" "0.000113951" "01943" "DEPDC5_000166" "g.32218682C>A" "" "" "" "DEPDC5(NM_001242896.2):c.2010C>A (p.H670Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728115" "0" "90" "22" "32239092" "32239092" "subst" "4.08774E-6" "02329" "DEPDC5_000106" "g.32239092C>T" "" "" "" "DEPDC5(NM_001242896.3):c.2527C>T (p.R843*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728116" "0" "50" "22" "32239768" "32239768" "subst" "4.06177E-6" "02329" "DEPDC5_000200" "g.32239768A>G" "" "" "" "DEPDC5(NM_001242896.2):c.2771A>G (p.Y924C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728117" "0" "50" "22" "32266729" "32266729" "subst" "0" "02327" "DEPDC5_000017" "g.32266729A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728118" "0" "30" "22" "32293547" "32293547" "subst" "4.06161E-6" "01943" "DEPDC5_000201" "g.32293547G>A" "" "" "" "DEPDC5(NM_001242896.2):c.4283G>A (p.S1428N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809571" "0" "50" "22" "32210970" "32210970" "subst" "8.13988E-6" "01943" "DEPDC5_000202" "g.32210970C>A" "" "" "" "DEPDC5(NM_001242896.2):c.1446-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809572" "0" "90" "22" "32210991" "32210991" "subst" "4.06392E-6" "02329" "DEPDC5_000203" "g.32210991C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1459C>T (p.R487*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809573" "0" "50" "22" "32211199" "32211199" "subst" "0" "02327" "DEPDC5_000204" "g.32211199G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809574" "0" "30" "22" "32233073" "32233073" "subst" "0.000219334" "01943" "DEPDC5_000205" "g.32233073C>T" "" "" "" "DEPDC5(NM_001242896.2):c.2286C>T (p.D762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809575" "0" "30" "22" "32241136" "32241136" "subst" "6.90754E-5" "01943" "DEPDC5_000206" "g.32241136C>T" "" "" "" "DEPDC5(NM_001242896.2):c.2934C>T (p.D978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809576" "0" "30" "22" "32241215" "32241215" "subst" "2.86876E-5" "02326" "DEPDC5_000207" "g.32241215A>G" "" "" "" "DEPDC5(NM_001242896.3):c.3013A>G (p.M1005V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809577" "0" "30" "22" "32253522" "32253522" "subst" "2.08796E-5" "01943" "DEPDC5_000116" "g.32253522A>C" "" "" "" "DEPDC5(NM_001136029.2):c.3220A>C (p.(Met1074Leu)), DEPDC5(NM_001242896.2):c.3247A>C (p.M1083L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809578" "0" "30" "22" "32266650" "32266650" "subst" "0" "01943" "DEPDC5_000208" "g.32266650C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3405C>T (p.D1135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000828319" "0" "70" "22" "32202115" "32202115" "del" "0" "01164" "DEPDC5_000209" "g.32202115del" "" "PMID: 31835056" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.31806129del" "" "likely pathogenic (dominant)" "ACMG" "0000832668" "0" "70" "22" "32187969" "32188139" "del" "0" "01164" "DEPDC5_000210" "g.(?_32187969)_(32188139_?)del" "" "" "" "NC_000022.11:g.(?_31792013)_(31792122_?)del (VCV000831318.1 ClinVar)" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000856137" "0" "50" "22" "32234820" "32234820" "subst" "0" "01943" "DEPDC5_000213" "g.32234820T>C" "" "" "" "DEPDC5(NM_001242896.2):c.2504T>C (p.L835P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856138" "0" "50" "22" "32239141" "32239141" "subst" "0.000117777" "01943" "DEPDC5_000214" "g.32239141C>T" "" "" "" "DEPDC5(NM_001242896.2):c.2576C>T (p.T859M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856139" "0" "30" "22" "32239163" "32239163" "subst" "0" "01943" "DEPDC5_000215" "g.32239163G>A" "" "" "" "DEPDC5(NM_001242896.2):c.2598G>A (p.K866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856140" "0" "30" "22" "32241052" "32241052" "subst" "4.0627E-6" "01943" "DEPDC5_000217" "g.32241052A>G" "" "" "" "DEPDC5(NM_001242896.2):c.2850A>G (p.P950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856141" "0" "30" "22" "32253488" "32253488" "subst" "0.000185851" "01943" "DEPDC5_000218" "g.32253488C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3213C>T (p.A1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856142" "0" "30" "22" "32272181" "32272181" "subst" "1.62644E-5" "01943" "DEPDC5_000219" "g.32272181C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3735C>T (p.G1245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856143" "0" "50" "22" "32272191" "32272191" "subst" "6.50475E-5" "01943" "DEPDC5_000220" "g.32272191C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3745C>T (p.R1249W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866815" "0" "90" "22" "32188089" "32188089" "subst" "0" "02327" "DEPDC5_000211" "g.32188089G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866816" "0" "30" "22" "32217495" "32217495" "subst" "1.63212E-5" "01943" "DEPDC5_000212" "g.32217495C>T" "" "" "" "DEPDC5(NM_001136029.3):c.1878C>T (p.S626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866817" "0" "30" "22" "32240994" "32240994" "subst" "3.6597E-5" "01943" "DEPDC5_000216" "g.32240994G>T" "" "" "" "DEPDC5(NM_001242896.2):c.2802-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866818" "0" "50" "22" "32242953" "32242953" "subst" "9.74714E-5" "01943" "DEPDC5_000188" "g.32242953A>G" "" "" "" "DEPDC5(NM_001242896.2):c.3155A>G (p.K1052R), DEPDC5(NM_001242896.3):c.3155A>G (p.K1052R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866819" "0" "50" "22" "32266706" "32266706" "subst" "7.78495E-5" "01943" "DEPDC5_000121" "g.32266706C>T" "" "" "" "DEPDC5(NM_001242896.2):c.3461C>T (p.S1154F), DEPDC5(NM_001242896.3):c.3461C>T (p.S1154F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895685" "0" "50" "22" "32161000" "32161000" "subst" "7.31125E-5" "02325" "DEPDC5_000221" "g.32161000G>C" "" "" "" "DEPDC5(NM_001242896.3):c.233G>C (p.R78P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895686" "0" "90" "22" "32194579" "32194579" "subst" "0" "02327" "DEPDC5_000222" "g.32194579C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895687" "0" "50" "22" "32198702" "32198702" "subst" "0" "02325" "DEPDC5_000223" "g.32198702A>C" "" "" "" "DEPDC5(NM_001242896.3):c.959A>C (p.H320P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915529" "0" "90" "22" "32211195" "32211195" "subst" "0" "02329" "DEPDC5_000080" "g.32211195C>T" "" "" "" "DEPDC5(NM_001242896.3):c.1663C>T (p.R555*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915530" "0" "50" "22" "32289690" "32289690" "subst" "0" "02327" "DEPDC5_000224" "g.32289690A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927154" "0" "50" "22" "32257390" "32257390" "subst" "0" "02329" "DEPDC5_000225" "g.32257390C>G" "" "" "" "DEPDC5(NM_001242896.3):c.3301C>G (p.R1101G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931278" "0" "50" "22" "32211157" "32211157" "subst" "0" "02327" "DEPDC5_000226" "g.32211157A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931279" "0" "50" "22" "32269318" "32269318" "subst" "1.2201E-5" "02325" "DEPDC5_000227" "g.32269318C>T" "" "" "" "DEPDC5(NM_001242896.3):c.3563C>T (p.S1188L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931280" "0" "50" "22" "32302410" "32302410" "subst" "0" "02327" "DEPDC5_000228" "g.32302410G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931598" "0" "90" "22" "32164800" "32164804" "del" "0" "00006" "DEPDC5_000229" "g.32164800_32164804del" "" "{PMID:Yin 2023:36604176}" "" "364_368delGTCAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31768814_31768818del" "" "pathogenic (dominant)" "" "0000931599" "11" "90" "22" "32164800" "32164804" "del" "0" "00006" "DEPDC5_000229" "g.32164800_32164804del" "" "{PMID:Yin 2023:36604176}" "" "364_368delGTCAG" "" "Germline" "" "" "0" "" "" "g.31768814_31768818del" "" "pathogenic (dominant)" "" "0000931600" "21" "90" "22" "32164800" "32164804" "del" "0" "00006" "DEPDC5_000229" "g.32164800_32164804del" "" "{PMID:Yin 2023:36604176}" "" "364_368delGTCAG" "" "Germline" "" "" "0" "" "" "g.31768814_31768818del" "" "pathogenic (dominant)" "" "0000931601" "21" "90" "22" "32164800" "32164804" "del" "0" "00006" "DEPDC5_000229" "g.32164800_32164804del" "" "{PMID:Yin 2023:36604176}" "" "364_368delGTCAG" "" "Germline" "" "" "0" "" "" "g.31768814_31768818del" "" "pathogenic (dominant)" "" "0000931602" "0" "90" "22" "32174132" "32174133" "del" "0" "00006" "DEPDC5_000230" "g.32174132_32174133del" "" "{PMID:Yin 2023:36604176}" "" "461_462delGC" "" "Germline" "" "" "0" "" "" "g.31778146_31778147del" "" "pathogenic (dominant)" "" "0000931603" "0" "90" "22" "32174132" "32174133" "del" "0" "00006" "DEPDC5_000230" "g.32174132_32174133del" "" "{PMID:Yin 2023:36604176}" "" "461_462delGC" "" "Germline" "" "" "0" "" "" "g.31778146_31778147del" "" "pathogenic (dominant)" "" "0000931604" "10" "90" "22" "32174132" "32174133" "del" "0" "00006" "DEPDC5_000230" "g.32174132_32174133del" "" "{PMID:Yin 2023:36604176}" "" "461_462delGC" "" "Germline" "" "" "0" "" "" "g.31778146_31778147del" "" "pathogenic (dominant)" "" "0000931605" "21" "90" "22" "32174132" "32174133" "del" "0" "00006" "DEPDC5_000230" "g.32174132_32174133del" "" "{PMID:Yin 2023:36604176}" "" "461_462delGC" "" "Germline" "" "" "0" "" "" "g.31778146_31778147del" "" "pathogenic (dominant)" "" "0000931606" "20" "90" "22" "32174132" "32174133" "del" "0" "00006" "DEPDC5_000230" "g.32174132_32174133del" "" "{PMID:Yin 2023:36604176}" "" "461_462delGC" "" "Germline" "" "" "0" "" "" "g.31778146_31778147del" "" "pathogenic (dominant)" "" "0000931607" "0" "90" "22" "32202154" "32202154" "subst" "0" "00006" "DEPDC5_000231" "g.32202154C>T" "" "{PMID:Yin 2023:36604176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31806168C>T" "" "pathogenic (dominant)" "" "0000931608" "20" "90" "22" "32202154" "32202154" "subst" "0" "00006" "DEPDC5_000231" "g.32202154C>T" "" "{PMID:Yin 2023:36604176}" "" "" "" "Germline" "" "" "0" "" "" "g.31806168C>T" "" "pathogenic (dominant)" "" "0000931609" "20" "90" "22" "32202154" "32202154" "subst" "0" "00006" "DEPDC5_000231" "g.32202154C>T" "" "{PMID:Yin 2023:36604176}" "" "" "" "Germline" "" "" "0" "" "" "g.31806168C>T" "" "pathogenic (dominant)" "" "0000931610" "21" "90" "22" "32202154" "32202154" "subst" "0" "00006" "DEPDC5_000231" "g.32202154C>T" "" "{PMID:Yin 2023:36604176}" "" "" "" "Germline" "" "" "0" "" "" "g.31806168C>T" "" "pathogenic (dominant)" "" "0000935926" "0" "90" "22" "32150927" "32150927" "subst" "6.09152E-5" "00006" "DEPDC5_000232" "g.32150927A>G" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31754941A>G" "" "pathogenic (dominant)" "" "0000935936" "0" "90" "22" "32188089" "32188089" "subst" "0" "00006" "DEPDC5_000211" "g.32188089G>A" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31792103G>A" "" "pathogenic" "" "0000939850" "1" "70" "22" "32174093" "32174094" "ins" "0" "00006" "DEPDC5_000233" "g.32174093_32174094insCTGG" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.31778107_31778108insCTGG" "" "likely pathogenic (dominant)" "" "0000951595" "0" "50" "22" "32180812" "32180812" "subst" "0" "02329" "DEPDC5_000234" "g.32180812T>A" "" "" "" "DEPDC5(NM_001242896.3):c.575T>A (p.F192Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984191" "0" "30" "22" "32162660" "32162661" "del" "0.000446813" "01804" "DEPDC5_000159" "g.32162660_32162661del" "" "" "" "DEPDC5(NM_001242896.2):c.363+6_363+7delAT, DEPDC5(NM_001242896.3):c.363+6_363+7del, DEPDC5(NM_001242896.3):c.363+6_363+7delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984192" "0" "50" "22" "32193660" "32193660" "subst" "3.25468E-5" "01804" "DEPDC5_000235" "g.32193660A>T" "" "" "" "DEPDC5(NM_001136029.2):c.842A>T (p.(Tyr281Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984193" "0" "10" "22" "32217621" "32217621" "subst" "0.00152602" "01804" "DEPDC5_000236" "g.32217621A>G" "" "" "" "DEPDC5(NM_001242896.3):c.2004A>G (p.(Gly668=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984194" "0" "30" "22" "32218707" "32218707" "subst" "9.75872E-5" "01804" "DEPDC5_000087" "g.32218707G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2035G>A (p.(Gly679Ser), p.G679S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984195" "0" "30" "22" "32241123" "32241123" "subst" "1.6252E-5" "01804" "DEPDC5_000237" "g.32241123G>A" "" "" "" "DEPDC5(NM_001242896.3):c.2921G>A (p.(Arg974His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984196" "0" "50" "22" "32275678" "32275678" "subst" "0" "02325" "DEPDC5_000238" "g.32275678A>G" "" "" "" "DEPDC5(NM_001242896.3):c.3973A>G (p.S1325G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984197" "0" "50" "22" "32293571" "32293571" "subst" "0" "02329" "DEPDC5_000239" "g.32293571G>C" "" "" "" "DEPDC5(NM_001242896.3):c.4307G>C (p.R1436P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984198" "0" "50" "22" "32302427" "32302427" "subst" "2.84625E-5" "01804" "DEPDC5_000240" "g.32302427C>T" "" "" "" "DEPDC5(NM_001242896.3):c.4756C>T (p.(Arg1586Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006020" "0" "50" "22" "32150851" "32150851" "subst" "0" "01804" "DEPDC5_000001" "g.32150851G>C" "" "" "" "DEPDC5(NM_001242896.1):c.-57G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006021" "0" "50" "22" "32160999" "32160999" "subst" "0" "01804" "DEPDC5_000241" "g.32160999C>T" "" "" "" "DEPDC5(NM_001242896.1):c.232C>T (p.(Arg78Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006022" "0" "50" "22" "32164807" "32164807" "subst" "0" "01804" "DEPDC5_000242" "g.32164807C>T" "" "" "" "DEPDC5(NM_001136029.2):c.371C>T (p.(Thr124Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006023" "0" "30" "22" "32215155" "32215155" "subst" "2.03224E-5" "01804" "DEPDC5_000243" "g.32215155G>A" "" "" "" "DEPDC5(NM_001136029.2):c.1814G>A (p.(Arg605Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006024" "0" "30" "22" "32242917" "32242917" "subst" "0" "01804" "DEPDC5_000244" "g.32242917C>G" "" "" "" "DEPDC5(NM_001136029.2):c.3092C>G (p.(Ala1031Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006025" "0" "50" "22" "32297743" "32297743" "subst" "2.44774E-5" "02325" "DEPDC5_000245" "g.32297743C>T" "" "" "" "DEPDC5(NM_001242896.3):c.4391C>T (p.T1464M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015937" "0" "50" "22" "32161020" "32161020" "subst" "4.06197E-6" "02327" "DEPDC5_000246" "g.32161020G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015938" "0" "50" "22" "32302224" "32302224" "subst" "0" "02325" "DEPDC5_000247" "g.32302224G>A" "" "" "" "DEPDC5(NM_001242896.3):c.4553G>A (p.R1518H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027401" "0" "50" "22" "32269302" "32269302" "subst" "4.47002E-5" "02329" "DEPDC5_000123" "g.32269302G>A" "" "" "" "DEPDC5(NM_001242896.3):c.3547G>A (p.A1183T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027402" "0" "50" "22" "32302245" "32302245" "subst" "0" "02329" "DEPDC5_000248" "g.32302245G>A" "" "" "" "DEPDC5(NM_001242896.3):c.4574G>A (p.R1525Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043831" "0" "50" "22" "32154603" "32154603" "subst" "8.12242E-6" "01804" "DEPDC5_000249" "g.32154603C>G" "" "" "" "DEPDC5(NM_001242896.3):c.130C>G (p.(Pro44Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043832" "0" "90" "22" "32156682" "32156682" "subst" "0" "02327" "DEPDC5_000250" "g.32156682C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043833" "0" "50" "22" "32202124" "32202124" "subst" "2.43895E-5" "01804" "DEPDC5_000251" "g.32202124A>T" "" "" "" "DEPDC5(NM_001242896.3):c.1234A>T (p.(Ser412Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043834" "0" "50" "22" "32202125" "32202125" "subst" "2.43936E-5" "01804" "DEPDC5_000252" "g.32202125G>A" "" "" "" "DEPDC5(NM_001242896.3):c.1235G>A (p.(Ser412Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043835" "0" "50" "22" "32202175" "32202175" "subst" "0" "01804" "DEPDC5_000253" "g.32202175A>G" "" "" "" "DEPDC5(NM_001242896.3):c.1285A>G (p.(Lys429Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043836" "0" "50" "22" "32239169" "32239170" "del" "0" "01804" "DEPDC5_000254" "g.32239169_32239170del" "" "" "" "DEPDC5(NM_001242896.3):c.2604_2605del (p.(Lys868Asnfs*14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043837" "0" "50" "22" "32239770" "32239770" "subst" "0" "01804" "DEPDC5_000255" "g.32239770A>G" "" "" "" "DEPDC5(NM_001242896.3):c.2773A>G (p.(Ile925Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043838" "0" "50" "22" "32270307" "32270307" "subst" "0" "01804" "DEPDC5_000256" "g.32270307C>T" "" "" "" "DEPDC5(NM_001242896.3):c.3612C>T (p.(Cys1204=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047993" "0" "70" "22" "32215100" "32215100" "subst" "4.06342E-6" "01164" "DEPDC5_000257" "g.32215100C>T" "" "PMID: 25623524, 31875159" "" "" "ACMG: PVS1, PS4_moderate, PM2_supporting" "Germline" "?" "" "" "" "" "g.31819114C>T" "VCV000264734.53" "pathogenic (dominant)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DEPDC5 ## Count = 320 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000188142" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188150" "00025398" "70" "1287" "3" "1287" "3" "c.1287+3A>G" "r.spl?" "p.?" "" "0000188158" "00025398" "30" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ser712Phe)" "" "0000188189" "00025398" "30" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ser712Phe)" "" "0000188195" "00025398" "50" "1355" "0" "1355" "0" "c.1355C>T" "r.(?)" "p.(Ala452Val)" "" "0000188212" "00025398" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0000188219" "00025398" "50" "-57" "0" "-57" "0" "c.-57G>C" "r.(=)" "p.(=)" "" "0000188220" "00025398" "70" "3740" "0" "3740" "0" "c.3740C>G" "r.(?)" "p.(Ala1247Gly)" "" "0000188225" "00025398" "70" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Cys)" "" "0000188235" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188240" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188252" "00025398" "50" "3265" "-3" "3265" "-3" "c.3265-3C>T" "r.spl?" "p.?" "" "0000188269" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188272" "00025398" "30" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ser712Phe)" "" "0000188290" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188301" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188313" "00025398" "30" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "" "0000188320" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188324" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188333" "00025398" "70" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Ile)" "" "0000188347" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188353" "00025398" "50" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Val272Leu)" "" "0000188360" "00025398" "90" "3444" "0" "3444" "0" "c.3444del" "r.(?)" "p.(Ile1148Metfs*24)" "" "0000188375" "00025398" "50" "2066" "0" "2066" "0" "c.2066A>C" "r.(?)" "p.(Glu689Ala)" "" "0000188377" "00025398" "50" "3265" "-3" "3265" "-3" "c.3265-3C>T" "r.spl?" "p.?" "" "0000188400" "00025398" "30" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ser712Phe)" "" "0000188417" "00025398" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Cys)" "" "0000188419" "00025398" "50" "-57" "0" "-57" "0" "c.-57G>C" "r.(=)" "p.(=)" "" "0000188421" "00025398" "70" "3484" "0" "3484" "0" "c.3484A>G" "r.(?)" "p.(Ser1162Gly)" "" "0000188427" "00025398" "70" "2492" "0" "2493" "0" "c.2492_2493insAGA" "r.(?)" "p.(Ser831delinsArgAsp)" "" "0000188444" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188496" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188504" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000188537" "00025398" "70" "3241" "0" "3241" "0" "c.3241A>C" "r.(?)" "p.(Thr1081Pro)" "" "0000251055" "00025398" "10" "885" "0" "885" "0" "c.885A>G" "r.(?)" "p.(Gln295=)" "" "0000251119" "00025398" "10" "3358" "0" "3358" "0" "c.3358A>G" "r.(?)" "p.(Met1120Val)" "" "0000251648" "00025398" "10" "194" "-97" "194" "-97" "c.194-97A>G" "r.(=)" "p.(=)" "" "0000251649" "00025398" "10" "483" "44" "483" "44" "c.483+44A>G" "r.(=)" "p.(=)" "" "0000251650" "00025398" "10" "2105" "-227" "2105" "-227" "c.2105-227A>G" "r.(=)" "p.(=)" "" "0000251651" "00025398" "10" "2516" "-106" "2516" "-106" "c.2516-106A>G" "r.(=)" "p.(=)" "" "0000251652" "00025398" "10" "3486" "-218" "3486" "-218" "c.3486-218A>G" "r.(=)" "p.(=)" "" "0000251815" "00025398" "30" "3567" "0" "3567" "0" "c.3567A>G" "r.(?)" "p.(Thr1189=)" "" "0000252327" "00025398" "30" "-60" "-105" "-60" "-105" "c.-60-105A>G" "r.(=)" "p.(=)" "" "0000252328" "00025398" "30" "-60" "-27" "-60" "-27" "c.-60-27A>T" "r.(=)" "p.(=)" "" "0000252329" "00025398" "30" "58" "68" "58" "68" "c.58+68A>G" "r.(=)" "p.(=)" "" "0000252330" "00025398" "30" "58" "177" "58" "177" "c.58+177A>G" "r.(=)" "p.(=)" "" "0000252331" "00025398" "30" "364" "-80" "364" "-80" "c.364-80A>G" "r.(=)" "p.(=)" "" "0000252332" "00025398" "30" "625" "-72" "625" "-72" "c.625-72A>G" "r.(=)" "p.(=)" "" "0000252333" "00025398" "30" "694" "92" "694" "92" "c.694+92A>G" "r.(=)" "p.(=)" "" "0000252334" "00025398" "30" "695" "-109" "695" "-109" "c.695-109A>C" "r.(=)" "p.(=)" "" "0000252335" "00025398" "30" "872" "-77" "872" "-77" "c.872-77A>G" "r.(=)" "p.(=)" "" "0000252336" "00025398" "30" "872" "-62" "872" "-62" "c.872-62del" "r.(=)" "p.(=)" "" "0000252337" "00025398" "30" "1217" "119" "1217" "119" "c.1217+119A>G" "r.(=)" "p.(=)" "" "0000252338" "00025398" "30" "1445" "92" "1445" "92" "c.1445+92A>T" "r.(=)" "p.(=)" "" "0000252339" "00025398" "30" "1870" "110" "1870" "110" "c.1870+110A>G" "r.(=)" "p.(=)" "" "0000252340" "00025398" "30" "1871" "-110" "1871" "-110" "c.1871-110A>G" "r.(=)" "p.(=)" "" "0000252341" "00025398" "30" "2171" "-49" "2171" "-49" "c.2171-49A>T" "r.(=)" "p.(=)" "" "0000252342" "00025398" "30" "2516" "-140" "2516" "-140" "c.2516-140del" "r.(=)" "p.(=)" "" "0000252343" "00025398" "30" "2516" "-136" "2516" "-136" "c.2516-136del" "r.(=)" "p.(=)" "" "0000252344" "00025398" "30" "2516" "-34" "2516" "-34" "c.2516-34A>C" "r.(=)" "p.(=)" "" "0000252345" "00025398" "30" "2802" "-80" "2802" "-80" "c.2802-80A>G" "r.(=)" "p.(=)" "" "0000252346" "00025398" "30" "3265" "-173" "3265" "-173" "c.3265-173del" "r.(=)" "p.(=)" "" "0000254276" "00025398" "30" "3177" "0" "3177" "0" "c.3177A>G" "r.(?)" "p.(Ala1059=)" "" "0000267314" "00025398" "30" "1666" "192" "1666" "195" "c.1666+192_1666+195del" "r.(=)" "p.(=)" "" "0000267315" "00025398" "30" "1666" "195" "1666" "195" "c.1666+195del" "r.(=)" "p.(=)" "" "0000270694" "00025398" "30" "1081" "144" "1081" "144" "c.1081+144G>A" "r.(=)" "p.(=)" "" "0000270695" "00025398" "30" "1081" "44" "1081" "44" "c.1081+44C>A" "r.(=)" "p.(=)" "" "0000270696" "00025398" "30" "1082" "-107" "1082" "-107" "c.1082-107G>A" "r.(=)" "p.(=)" "" "0000270697" "00025398" "10" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(Asp365=)" "" "0000270698" "00025398" "30" "1143" "46" "1143" "46" "c.1143+46G>C" "r.(=)" "p.(=)" "" "0000270699" "00025398" "30" "1143" "92" "1143" "92" "c.1143+92C>T" "r.(=)" "p.(=)" "" "0000270701" "00025398" "10" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000270702" "00025398" "30" "1218" "-13" "1218" "-10" "c.1218-13_1218-10del" "r.(=)" "p.(=)" "" "0000270703" "00025398" "10" "1288" "-56" "1288" "-56" "c.1288-56G>A" "r.(=)" "p.(=)" "" "0000270704" "00025398" "30" "1291" "0" "1291" "0" "c.1291G>T" "r.(?)" "p.(Ala431Ser)" "" "0000270705" "00025398" "30" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "" "0000270706" "00025398" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Ala461=)" "" "0000270707" "00025398" "30" "1445" "116" "1445" "116" "c.1445+116C>T" "r.(=)" "p.(=)" "" "0000270708" "00025398" "30" "147" "-121" "147" "-121" "c.147-121C>T" "r.(=)" "p.(=)" "" "0000270709" "00025398" "10" "147" "-34" "147" "-34" "c.147-34G>A" "r.(=)" "p.(=)" "" "0000270710" "00025398" "10" "147" "-56" "147" "-56" "c.147-56T>A" "r.(=)" "p.(=)" "" "0000270711" "00025398" "30" "1472" "0" "1472" "0" "c.1472G>C" "r.(?)" "p.(Ser491Thr)" "" "0000270712" "00025398" "90" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(Arg555Ter)" "" "0000270713" "00025398" "30" "1666" "141" "1666" "141" "c.1666+141C>G" "r.(=)" "p.(=)" "" "0000270714" "00025398" "10" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Ala641Val)" "" "0000270715" "00025398" "30" "194" "-17" "194" "-17" "c.194-17T>A" "r.(=)" "p.(=)" "" "0000270716" "00025398" "30" "2007" "-134" "2007" "-134" "c.2007-134G>T" "r.(=)" "p.(=)" "" "0000270717" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000270718" "00025398" "30" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Gly679Ser)" "" "0000270719" "00025398" "10" "2055" "0" "2055" "0" "c.2055C>A" "r.(?)" "p.(Phe685Leu)" "" "0000270720" "00025398" "30" "2072" "0" "2072" "0" "c.2072T>C" "r.(?)" "p.(Leu691Pro)" "" "0000270721" "00025398" "30" "2075" "0" "2075" "0" "c.2075C>T" "r.(?)" "p.(Ser692Phe)" "" "0000270722" "00025398" "10" "2104" "3607" "2104" "3607" "c.2104+3607T>C" "r.(=)" "p.(=)" "" "0000270723" "00025398" "30" "2104" "3838" "2104" "3838" "c.2104+3838C>T" "r.(=)" "p.(=)" "" "0000270724" "00025398" "30" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ser712Phe)" "" "0000270725" "00025398" "30" "2170" "133" "2170" "133" "c.2170+133C>T" "r.(=)" "p.(=)" "" "0000270726" "00025398" "30" "2170" "24" "2170" "24" "c.2170+24G>A" "r.(=)" "p.(=)" "" "0000270727" "00025398" "30" "2170" "97" "2170" "97" "c.2170+97G>A" "r.(=)" "p.(=)" "" "0000270728" "00025398" "30" "2241" "0" "2241" "0" "c.2241C>G" "r.(?)" "p.(Leu747=)" "" "0000270729" "00025398" "10" "2354" "129" "2354" "131" "c.2354+129_2354+131del" "r.(=)" "p.(=)" "" "0000270730" "00025398" "10" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Pro827=)" "" "0000270731" "00025398" "90" "2512" "0" "2512" "0" "c.2512C>T" "r.(?)" "p.(Arg838Ter)" "" "0000270732" "00025398" "10" "2515" "75" "2515" "75" "c.2515+75G>A" "r.(=)" "p.(=)" "" "0000270733" "00025398" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Ter)" "" "0000270734" "00025398" "70" "2591" "0" "2591" "0" "c.2591C>T" "r.(?)" "p.(Thr864Met)" "" "0000270735" "00025398" "10" "2633" "165" "2633" "165" "c.2633+165C>T" "r.(=)" "p.(=)" "" "0000270736" "00025398" "30" "2634" "-22" "2634" "-22" "c.2634-22G>A" "r.(=)" "p.(=)" "" "0000270737" "00025398" "10" "2742" "0" "2742" "0" "c.2742G>A" "r.(?)" "p.(Glu914=)" "" "0000270738" "00025398" "30" "279" "170" "279" "170" "c.279+170T>G" "r.(=)" "p.(=)" "" "0000270739" "00025398" "30" "280" "-81" "280" "-81" "c.280-81T>C" "r.(=)" "p.(=)" "" "0000270740" "00025398" "30" "3022" "-119" "3022" "-119" "c.3022-119del" "r.(=)" "p.(=)" "" "0000270741" "00025398" "30" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(Thr1023=)" "" "0000270742" "00025398" "30" "3156" "-53" "3156" "-53" "c.3156-53C>A" "r.(=)" "p.(=)" "" "0000270743" "00025398" "30" "3264" "129" "3264" "129" "c.3264+129C>T" "r.(=)" "p.(=)" "" "0000270744" "00025398" "50" "3461" "0" "3461" "0" "c.3461C>T" "r.(?)" "p.(Ser1154Phe)" "" "0000270745" "00025398" "50" "3547" "0" "3547" "0" "c.3547G>A" "r.(?)" "p.(Ala1183Thr)" "" "0000270746" "00025398" "30" "3563" "28" "3563" "28" "c.3563+28G>A" "r.(=)" "p.(=)" "" "0000270747" "00025398" "30" "363" "19" "363" "19" "c.363+19del" "r.(=)" "p.(=)" "" "0000270748" "00025398" "30" "363" "14" "363" "14" "c.363+14T>A" "r.(=)" "p.(=)" "" "0000270749" "00025398" "30" "363" "185" "363" "185" "c.363+185T>A" "r.(=)" "p.(=)" "" "0000270750" "00025398" "10" "364" "-10" "364" "-10" "c.364-10C>T" "r.(=)" "p.(=)" "" "0000270751" "00025398" "30" "3696" "10" "3696" "10" "c.3696+10C>A" "r.(=)" "p.(=)" "" "0000270752" "00025398" "30" "3696" "147" "3696" "147" "c.3696+147T>A" "r.(=)" "p.(=)" "" "0000270753" "00025398" "30" "3696" "18" "3696" "18" "c.3696+18G>A" "r.(=)" "p.(=)" "" "0000270754" "00025398" "90" "3696" "5" "3696" "5" "c.3696+5G>A" "r.spl?" "p.?" "" "0000270756" "00025398" "70" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Arg1332Ter)" "" "0000270757" "00025398" "30" "414" "-124" "414" "-124" "c.414-124T>C" "r.(=)" "p.(=)" "" "0000270758" "00025398" "30" "414" "-95" "414" "-95" "c.414-95T>C" "r.(=)" "p.(=)" "" "0000270759" "00025398" "90" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Trp145Ter)" "" "0000270760" "00025398" "10" "4375" "112" "4375" "112" "c.4375+112C>G" "r.(=)" "p.(=)" "" "0000270761" "00025398" "30" "4375" "25" "4375" "25" "c.4375+25T>G" "r.(=)" "p.(=)" "" "0000270762" "00025398" "30" "4375" "46" "4375" "46" "c.4375+46C>T" "r.(=)" "p.(=)" "" "0000270763" "00025398" "10" "4376" "-107" "4376" "-107" "c.4376-107T>G" "r.(=)" "p.(=)" "" "0000270764" "00025398" "30" "4376" "-130" "4376" "-130" "c.4376-130G>A" "r.(=)" "p.(=)" "" "0000270765" "00025398" "30" "4437" "-189" "4437" "-189" "c.4437-189G>A" "r.(=)" "p.(=)" "" "0000270766" "00025398" "30" "4437" "-83" "4437" "-83" "c.4437-83G>A" "r.(=)" "p.(=)" "" "0000270767" "00025398" "10" "4512" "0" "4512" "0" "c.4512C>T" "r.(?)" "p.(His1504=)" "" "0000270768" "00025398" "30" "4520" "-62" "4520" "-62" "c.4520-62C>A" "r.(=)" "p.(=)" "" "0000270769" "00025398" "30" "58" "167" "58" "167" "c.58+167C>T" "r.(=)" "p.(=)" "" "0000270770" "00025398" "30" "58" "20" "58" "20" "c.58+20del" "r.(=)" "p.(=)" "" "0000270771" "00025398" "10" "58" "214" "58" "214" "c.58+214G>A" "r.(=)" "p.(=)" "" "0000270772" "00025398" "30" "58" "63" "58" "63" "c.58+63C>G" "r.(=)" "p.(=)" "" "0000270773" "00025398" "30" "59" "-30" "59" "-30" "c.59-30T>C" "r.(=)" "p.(=)" "" "0000270774" "00025398" "30" "694" "156" "694" "156" "c.694+156G>A" "r.(=)" "p.(=)" "" "0000270775" "00025398" "30" "694" "209" "694" "209" "c.694+209T>C" "r.(=)" "p.(=)" "" "0000270776" "00025398" "30" "694" "23" "694" "23" "c.694+23C>T" "r.(=)" "p.(=)" "" "0000270777" "00025398" "30" "871" "160" "871" "160" "c.871+160G>A" "r.(=)" "p.(=)" "" "0000270778" "00025398" "30" "871" "167" "871" "167" "c.871+167G>A" "r.(=)" "p.(=)" "" "0000270779" "00025398" "10" "871" "189" "871" "189" "c.871+189T>A" "r.(=)" "p.(=)" "" "0000270780" "00025398" "70" "871" "1" "871" "1" "c.871+1G>T" "r.spl?" "p.?" "" "0000270781" "00025398" "30" "872" "-37" "872" "-37" "c.872-37T>C" "r.(=)" "p.(=)" "" "0000270782" "00025398" "30" "946" "33" "946" "33" "c.946+33T>C" "r.(=)" "p.(=)" "" "0000270783" "00025398" "10" "946" "58" "946" "58" "c.946+58G>A" "r.(=)" "p.(=)" "" "0000270784" "00025398" "30" "947" "-76" "947" "-76" "c.947-76T>C" "r.(=)" "p.(=)" "" "0000274934" "00025398" "30" "1143" "6" "1143" "6" "c.1143+6T>C" "r.(=)" "p.(=)" "" "0000274935" "00025398" "30" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Ser410=)" "" "0000274936" "00025398" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Cys)" "" "0000274937" "00025398" "30" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(Gln542=)" "" "0000274938" "00025398" "30" "252" "0" "252" "0" "c.252T>C" "r.(?)" "p.(Asp84=)" "" "0000274939" "00025398" "30" "3696" "10" "3696" "10" "c.3696+10C>A" "r.(=)" "p.(=)" "" "0000274940" "00025398" "50" "483" "5" "483" "5" "c.483+5G>C" "r.spl?" "p.?" "" "0000328983" "00025398" "50" "3247" "0" "3247" "0" "c.3247A>C" "r.(?)" "p.(Met1083Leu)" "" "0000341165" "00025398" "50" "4183" "0" "4183" "0" "c.4183G>A" "r.(?)" "p.(Ala1395Thr)" "" "0000343408" "00025398" "90" "2512" "0" "2512" "0" "c.2512C>T" "r.(?)" "p.(Arg838Ter)" "" "0000343477" "00025398" "50" "2735" "0" "2735" "0" "c.2735G>T" "r.(?)" "p.(Arg912Leu)" "" "0000343610" "00025398" "50" "4640" "0" "4640" "0" "c.4640A>G" "r.(?)" "p.(Asn1547Ser)" "" "0000348647" "00025398" "90" "3224" "0" "3224" "0" "c.3224G>A" "r.(?)" "p.(Ser1075Asn)" "" "0000348657" "00025398" "30" "3311" "0" "3311" "0" "c.3311C>T" "r.(?)" "p.(Ser1104Leu)" "" "0000349276" "00025398" "50" "4057" "0" "4057" "0" "c.4057A>G" "r.(?)" "p.(Thr1353Ala)" "" "0000350746" "00025398" "50" "2105" "-9" "2105" "-9" "c.2105-9T>C" "r.(=)" "p.(=)" "" "0000351107" "00025398" "70" "562" "1" "562" "1" "c.562+1G>A" "r.spl?" "p.?" "" "0000465624" "00025398" "70" "4312" "0" "4312" "0" "c.4312C>T" "r.(?)" "p.(Gln1438*)" "" "0000499850" "00025398" "50" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Pro92Ser)" "" "0000571786" "00025398" "10" "147" "-173" "147" "-173" "c.147-173C>T" "r.(=)" "p.(=)" "" "0000571787" "00025398" "50" "363" "1" "363" "1" "c.363+1G>T" "r.spl?" "p.?" "" "0000571788" "00025398" "30" "363" "6" "363" "7" "c.363+6_363+7del" "r.(=)" "p.(=)" "" "0000571789" "00025398" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0000571790" "00025398" "30" "1144" "-102" "1144" "-102" "c.1144-102dup" "r.(=)" "p.(=)" "" "0000571792" "00025398" "50" "1384" "0" "1384" "0" "c.1384T>C" "r.(?)" "p.(Tyr462His)" "" "0000571793" "00025398" "30" "1600" "0" "1600" "0" "c.1600A>C" "r.(?)" "p.(Met534Leu)" "" "0000571794" "00025398" "50" "1666" "4" "1666" "4" "c.1666+4A>G" "r.spl?" "p.?" "" "0000571796" "00025398" "30" "1870" "49" "1870" "49" "c.1870+49dup" "r.(=)" "p.(=)" "" "0000571797" "00025398" "30" "2010" "0" "2010" "0" "c.2010C>A" "r.(?)" "p.(His670Gln)" "" "0000571798" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000571799" "00025398" "30" "2055" "0" "2055" "0" "c.2055C>A" "r.(?)" "p.(Phe685Leu)" "" "0000571800" "00025398" "30" "2104" "3603" "2104" "3603" "c.2104+3603G>C" "r.(=)" "p.(=)" "" "0000571801" "00025398" "30" "2104" "3603" "2104" "3603" "c.2104+3603G>T" "r.(=)" "p.(=)" "" "0000571802" "00025398" "10" "2104" "3877" "2104" "3877" "c.2104+3877A>T" "r.(=)" "p.(=)" "" "0000571804" "00025398" "50" "2171" "-9" "2171" "-9" "c.2171-9G>A" "r.(=)" "p.(=)" "" "0000571805" "00025398" "30" "2171" "-9" "2171" "-9" "c.2171-9G>A" "r.(=)" "p.(=)" "" "0000571806" "00025398" "30" "2203" "0" "2203" "0" "c.2203G>A" "r.(?)" "p.(Gly735Ser)" "" "0000571807" "00025398" "30" "2354" "28" "2354" "28" "c.2354+28C>T" "r.(=)" "p.(=)" "" "0000571808" "00025398" "50" "2519" "0" "2519" "0" "c.2519T>C" "r.(?)" "p.(Leu840Pro)" "" "0000571809" "00025398" "10" "2856" "0" "2856" "0" "c.2856T>C" "r.(?)" "p.(Cys952=)" "" "0000571810" "00025398" "30" "3022" "-16" "3022" "-16" "c.3022-16C>T" "r.(=)" "p.(=)" "" "0000571811" "00025398" "30" "3085" "0" "3085" "0" "c.3085A>G" "r.(?)" "p.(Thr1029Ala)" "" "0000571812" "00025398" "30" "3265" "-3" "3265" "-3" "c.3265-3C>T" "r.spl?" "p.?" "" "0000571813" "00025398" "50" "3311" "0" "3311" "0" "c.3311C>T" "r.(?)" "p.(Ser1104Leu)" "" "0000571814" "00025398" "30" "3358" "0" "3358" "0" "c.3358A>G" "r.(?)" "p.(Met1120Val)" "" "0000571815" "00025398" "50" "3515" "0" "3515" "0" "c.3515C>A" "r.(?)" "p.(Thr1172Asn)" "" "0000571816" "00025398" "30" "3515" "0" "3515" "0" "c.3515C>A" "r.(?)" "p.(Thr1172Asn)" "" "0000571817" "00025398" "50" "3631" "0" "3631" "0" "c.3631G>C" "r.(?)" "p.(Val1211Leu)" "" "0000571818" "00025398" "50" "3805" "0" "3805" "0" "c.3805G>T" "r.(?)" "p.(Val1269Leu)" "" "0000571819" "00025398" "30" "3805" "125" "3805" "126" "c.3805+125_3805+126insG" "r.(=)" "p.(=)" "" "0000571820" "00025398" "30" "3805" "162" "3805" "162" "c.3805+162C>A" "r.(=)" "p.(=)" "" "0000571821" "00025398" "70" "4520" "-2" "4520" "-2" "c.4520-2A>G" "r.spl?" "p.?" "" "0000571822" "00025398" "30" "4826" "0" "4827" "0" "c.*14_*15insAGGGTTAGAAGGCTGCACC" "r.(=)" "p.(=)" "" "0000618559" "00025398" "50" "1958" "0" "1958" "0" "c.1958dup" "r.(?)" "p.(His653GlnfsTer13)" "" "0000618560" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000618563" "00025398" "50" "3311" "0" "3311" "0" "c.3311C>T" "r.(?)" "p.(Ser1104Leu)" "" "0000618564" "00025398" "50" "3461" "0" "3461" "0" "c.3461C>T" "r.(?)" "p.(Ser1154Phe)" "" "0000618565" "00025398" "30" "3567" "0" "3567" "0" "c.3567A>G" "r.(?)" "p.(Thr1189=)" "" "0000650950" "00025398" "10" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000650951" "00025398" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000650952" "00025398" "10" "2055" "0" "2055" "0" "c.2055C>A" "r.(?)" "p.(Phe685Leu)" "" "0000650953" "00025398" "10" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ser712Phe)" "" "0000650954" "00025398" "10" "2742" "0" "2742" "0" "c.2742G>A" "r.(=)" "p.(=)" "" "0000650955" "00025398" "10" "3358" "0" "3358" "0" "c.3358A>G" "r.(?)" "p.(Met1120Val)" "" "0000650956" "00025398" "10" "4512" "0" "4512" "0" "c.4512C>T" "r.(=)" "p.(=)" "" "0000653052" "00025398" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0000653430" "00025398" "50" "2765" "0" "2785" "0" "c.2765_2785del" "r.(?)" "p.(Asp922_Ala928del)" "" "0000658928" "00025398" "30" "3155" "0" "3155" "0" "c.3155A>G" "r.(?)" "p.(Lys1052Arg)" "" "0000658929" "00025398" "50" "3683" "0" "3683" "0" "c.3683T>C" "r.(?)" "p.(Ile1228Thr)" "" "0000667358" "00025398" "70" "4636" "0" "4636" "0" "c.4636T>C" "r.(?)" "p.(Tyr1546His)" "" "0000669713" "00025398" "10" "2055" "0" "2055" "0" "c.2055C>A" "r.(?)" "p.(Phe685Leu)" "" "0000669714" "00025398" "10" "2135" "0" "2135" "0" "c.2135C>T" "r.(?)" "p.(Ser712Phe)" "" "0000669715" "00025398" "10" "3358" "0" "3358" "0" "c.3358A>G" "r.(?)" "p.(Met1120Val)" "" "0000669716" "00025398" "10" "4512" "0" "4512" "0" "c.4512C>T" "r.(=)" "p.(=)" "" "0000681854" "00025398" "30" "363" "6" "363" "7" "c.363+6_363+7del" "r.(=)" "p.(=)" "" "0000681855" "00025398" "30" "609" "0" "609" "0" "c.609A>G" "r.(?)" "p.(Leu203=)" "" "0000681856" "00025398" "30" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Thr441Ala)" "" "0000681857" "00025398" "50" "2429" "0" "2429" "0" "c.2429G>T" "r.(?)" "p.(Gly810Val)" "" "0000681858" "00025398" "50" "3187" "0" "3187" "0" "c.3187G>T" "r.(?)" "p.(Gly1063Cys)" "" "0000684819" "00025398" "30" "3092" "0" "3092" "0" "c.3092C>A" "r.(?)" "p.(Pro1031His)" "" "0000693161" "00025398" "50" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "" "0000693162" "00025398" "30" "2801" "8" "2801" "8" "c.2801+8A>G" "r.(=)" "p.(=)" "" "0000693163" "00025398" "30" "3331" "-10" "3331" "-10" "c.3331-10del" "r.(=)" "p.(=)" "" "0000693164" "00025398" "90" "3489" "0" "3489" "0" "c.3489del" "r.(?)" "p.(Gln1164SerfsTer8)" "" "0000728112" "00025398" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Ser168=)" "" "0000728113" "00025398" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0000728114" "00025398" "30" "2010" "0" "2010" "0" "c.2010C>A" "r.(?)" "p.(His670Gln)" "" "0000728115" "00025398" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Ter)" "" "0000728116" "00025398" "50" "2771" "0" "2771" "0" "c.2771A>G" "r.(?)" "p.(Tyr924Cys)" "" "0000728117" "00025398" "50" "3484" "0" "3484" "0" "c.3484A>G" "r.(?)" "p.(Ser1162Gly)" "" "0000728118" "00025398" "30" "4283" "0" "4283" "0" "c.4283G>A" "r.(?)" "p.(Ser1428Asn)" "" "0000809571" "00025398" "50" "1446" "-8" "1446" "-8" "c.1446-8C>A" "r.(=)" "p.(=)" "" "0000809572" "00025398" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487*)" "" "0000809573" "00025398" "50" "1666" "1" "1666" "1" "c.1666+1G>T" "r.spl?" "p.?" "" "0000809574" "00025398" "30" "2286" "0" "2286" "0" "c.2286C>T" "r.(?)" "p.(Asp762=)" "" "0000809575" "00025398" "30" "2934" "0" "2934" "0" "c.2934C>T" "r.(?)" "p.(Asp978=)" "" "0000809576" "00025398" "30" "3013" "0" "3013" "0" "c.3013A>G" "r.(?)" "p.(Met1005Val)" "" "0000809577" "00025398" "30" "3247" "0" "3247" "0" "c.3247A>C" "r.(?)" "p.(Met1083Leu)" "" "0000809578" "00025398" "30" "3405" "0" "3405" "0" "c.3405C>T" "r.(?)" "p.(Asp1135=)" "" "0000828319" "00025398" "70" "1225" "0" "1225" "0" "c.1225del" "r.(?)" "p.(Thr409Hisfs*15)" "18" "0000832668" "00025398" "70" "625" "-50" "694" "51" "c.(?_625-50)_(694+51_?)del" "r.?" "p.(Glu209Metfs*6)" "" "0000856137" "00025398" "50" "2504" "0" "2504" "0" "c.2504T>C" "r.(?)" "p.(Leu835Pro)" "" "0000856138" "00025398" "50" "2576" "0" "2576" "0" "c.2576C>T" "r.(?)" "p.(Thr859Met)" "" "0000856139" "00025398" "30" "2598" "0" "2598" "0" "c.2598G>A" "r.(?)" "p.(Lys866=)" "" "0000856140" "00025398" "30" "2850" "0" "2850" "0" "c.2850A>G" "r.(?)" "p.(Pro950=)" "" "0000856141" "00025398" "30" "3213" "0" "3213" "0" "c.3213C>T" "r.(?)" "p.(Ala1071=)" "" "0000856142" "00025398" "30" "3735" "0" "3735" "0" "c.3735C>T" "r.(?)" "p.(Gly1245=)" "" "0000856143" "00025398" "50" "3745" "0" "3745" "0" "c.3745C>T" "r.(?)" "p.(Arg1249Trp)" "" "0000866815" "00025398" "90" "694" "1" "694" "1" "c.694+1G>A" "r.spl?" "p.?" "" "0000866816" "00025398" "30" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(Ser626=)" "" "0000866817" "00025398" "30" "2802" "-10" "2802" "-10" "c.2802-10G>T" "r.(=)" "p.(=)" "" "0000866818" "00025398" "50" "3155" "0" "3155" "0" "c.3155A>G" "r.(?)" "p.(Lys1052Arg)" "" "0000866819" "00025398" "50" "3461" "0" "3461" "0" "c.3461C>T" "r.(?)" "p.(Ser1154Phe)" "" "0000895685" "00025398" "50" "233" "0" "233" "0" "c.233G>C" "r.(?)" "p.(Arg78Pro)" "" "0000895686" "00025398" "90" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Gln295*)" "" "0000895687" "00025398" "50" "959" "0" "959" "0" "c.959A>C" "r.(?)" "p.(His320Pro)" "" "0000915529" "00025398" "90" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(Arg555Ter)" "" "0000915530" "00025398" "50" "4156" "0" "4156" "0" "c.4156A>C" "r.(?)" "p.(Ile1386Leu)" "" "0000927154" "00025398" "50" "3301" "0" "3301" "0" "c.3301C>G" "r.(?)" "p.(Arg1101Gly)" "" "0000931278" "00025398" "50" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Gln542Arg)" "" "0000931279" "00025398" "50" "3563" "0" "3563" "0" "c.3563C>T" "r.(?)" "p.(Ser1188Leu)" "" "0000931280" "00025398" "50" "4739" "0" "4739" "0" "c.4739G>C" "r.(?)" "p.(Cys1580Ser)" "" "0000931598" "00025398" "90" "364" "0" "368" "0" "c.364_368del" "r.364_368del" "p.(Val122HisfsTer20)" "" "0000931599" "00025398" "90" "364" "0" "368" "0" "c.364_368del" "r.364_368del" "p.(Val122HisfsTer20)" "" "0000931600" "00025398" "90" "364" "0" "368" "0" "c.364_368del" "r.364_368del" "p.(Val122HisfsTer20)" "" "0000931601" "00025398" "90" "364" "0" "368" "0" "c.364_368del" "r.364_368del" "p.(Val122HisfsTer20)" "" "0000931602" "00025398" "90" "461" "0" "462" "0" "c.461_462del" "r.461_462del" "p.(Gly154ValfsTer4)" "" "0000931603" "00025398" "90" "461" "0" "462" "0" "c.461_462del" "r.461_462del" "p.(Gly154ValfsTer4)" "" "0000931604" "00025398" "90" "461" "0" "462" "0" "c.461_462del" "r.461_462del" "p.(Gly154ValfsTer4)" "" "0000931605" "00025398" "90" "461" "0" "462" "0" "c.461_462del" "r.461_462del" "p.(Gly154ValfsTer4)" "" "0000931606" "00025398" "90" "461" "0" "462" "0" "c.461_462del" "r.461_462del" "p.(Gly154ValfsTer4)" "" "0000931607" "00025398" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Arg422Ter)" "" "0000931608" "00025398" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Arg422Ter)" "" "0000931609" "00025398" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Arg422Ter)" "" "0000931610" "00025398" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Arg422Ter)" "" "0000935926" "00025398" "90" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Tyr7Cys)" "" "0000935936" "00025398" "90" "694" "1" "694" "1" "c.694+1G>A" "r.spl" "p.?" "" "0000939850" "00025398" "70" "422" "0" "423" "0" "c.422_423insCTGG" "r.(?)" "p.(Gly142TrpfsTer3)" "8" "0000951595" "00025398" "50" "575" "0" "575" "0" "c.575T>A" "r.(?)" "p.(Phe192Tyr)" "" "0000984191" "00025398" "30" "363" "6" "363" "7" "c.363+6_363+7del" "r.(=)" "p.(=)" "" "0000984192" "00025398" "50" "842" "0" "842" "0" "c.842A>T" "r.(?)" "p.(Tyr281Phe)" "" "0000984193" "00025398" "10" "2004" "0" "2004" "0" "c.2004A>G" "r.(?)" "p.(=)" "" "0000984194" "00025398" "30" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Gly679Ser)" "" "0000984195" "00025398" "30" "2921" "0" "2921" "0" "c.2921G>A" "r.(?)" "p.(Arg974His)" "" "0000984196" "00025398" "50" "3973" "0" "3973" "0" "c.3973A>G" "r.(?)" "p.(Ser1325Gly)" "" "0000984197" "00025398" "50" "4307" "0" "4307" "0" "c.4307G>C" "r.(?)" "p.(Arg1436Pro)" "" "0000984198" "00025398" "50" "4756" "0" "4756" "0" "c.4756C>T" "r.(?)" "p.(Arg1586Trp)" "" "0001006020" "00025398" "50" "-57" "0" "-57" "0" "c.-57G>C" "r.(?)" "p.(=)" "" "0001006021" "00025398" "50" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Trp)" "" "0001006022" "00025398" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Ile)" "" "0001006023" "00025398" "30" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Arg605Gln)" "" "0001006024" "00025398" "30" "3119" "0" "3119" "0" "c.3119C>G" "r.(?)" "p.(Ala1040Gly)" "" "0001006025" "00025398" "50" "4391" "0" "4391" "0" "c.4391C>T" "r.(?)" "p.(Thr1464Met)" "" "0001015937" "00025398" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Ile)" "" "0001015938" "00025398" "50" "4553" "0" "4553" "0" "c.4553G>A" "r.(?)" "p.(Arg1518His)" "" "0001027401" "00025398" "50" "3547" "0" "3547" "0" "c.3547G>A" "r.(?)" "p.(Ala1183Thr)" "" "0001027402" "00025398" "50" "4574" "0" "4574" "0" "c.4574G>A" "r.(?)" "p.(Arg1525Gln)" "" "0001043831" "00025398" "50" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Pro44Ala)" "" "0001043832" "00025398" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Gln63*)" "" "0001043833" "00025398" "50" "1234" "0" "1234" "0" "c.1234A>T" "r.(?)" "p.(Ser412Cys)" "" "0001043834" "00025398" "50" "1235" "0" "1235" "0" "c.1235G>A" "r.(?)" "p.(Ser412Asn)" "" "0001043835" "00025398" "50" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Lys429Glu)" "" "0001043836" "00025398" "50" "2604" "0" "2605" "0" "c.2604_2605del" "r.(?)" "p.(Lys868Asnfs*14)" "" "0001043837" "00025398" "50" "2773" "0" "2773" "0" "c.2773A>G" "r.(?)" "p.(Ile925Val)" "" "0001043838" "00025398" "50" "3612" "0" "3612" "0" "c.3612C>T" "r.(?)" "p.(=)" "" "0001047993" "00025398" "70" "1759" "0" "1759" "0" "c.1759C>T" "r.?" "p.(Arg587*)" "22" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{variantid}}" "0000117287" "0000188444" "0000117297" "0000188142" "0000117305" "0000188150" "0000117313" "0000188158" "0000117344" "0000188189" "0000117350" "0000188195" "0000117367" "0000188212" "0000117374" "0000188219" "0000117375" "0000188220" "0000117380" "0000188225" "0000117390" "0000188235" "0000117395" "0000188240" "0000117407" "0000188252" "0000117424" "0000188269" "0000117427" "0000188272" "0000117445" "0000188290" "0000117453" "0000188496" "0000117456" "0000188301" "0000117468" "0000188313" "0000117475" "0000188320" "0000117476" "0000188504" "0000117479" "0000188324" "0000117494" "0000188417" "0000117503" "0000188333" "0000117514" "0000188347" "0000117518" "0000188353" "0000117523" "0000188360" "0000117536" "0000188375" "0000117538" "0000188377" "0000117555" "0000188537" "0000117559" "0000188400" "0000117574" "0000188419" "0000117576" "0000188421" "0000117580" "0000188427" "0000227385" "0000465624" "0000247009" "0000499850" "0000294261" "0000650950" "0000294262" "0000650951" "0000294263" "0000650952" "0000294264" "0000650953" "0000294265" "0000650954" "0000294266" "0000650955" "0000294267" "0000650956" "0000296363" "0000653052" "0000296732" "0000653430" "0000303968" "0000667358" "0000306025" "0000669713" "0000306026" "0000669714" "0000306027" "0000669715" "0000306028" "0000669716" "0000309917" "0000684819" "0000396668" "0000828319" "0000399978" "0000832668" "0000436917" "0000931598" "0000436918" "0000931599" "0000436919" "0000931600" "0000436920" "0000931601" "0000436921" "0000931602" "0000436922" "0000931603" "0000436923" "0000931604" "0000436924" "0000931605" "0000436925" "0000931606" "0000436926" "0000931607" "0000436927" "0000931608" "0000436928" "0000931609" "0000436929" "0000931610" "0000439797" "0000935926" "0000439807" "0000935936" "0000441908" "0000939850" "0000468242" "0001047993"